AlphaMissense
AlphaMissense is a deep learning model from Google DeepMind that predicts the pathogenicity of missense variants across the human proteome. It provides precomputed pathogenicity scores and classifications (likely benign, likely pathogenic, or ambiguous) for all approximately 71 million possible single amino acid substitutions in the human genome, as well as substitution effect scores for the entire proteome. The predictions are distributed via bulk download and accessible through hosted viewers and genome browsers.
[]
[{"category": "Product", "description": "Precomputed AlphaMissense pathogenicity predictions for all possible human missense variants and amino acid substitutions, including per-variant pathogenicity scores and class labels. Distributed as tab-separated value files via Zenodo and Google Cloud Storage.", "format": "tsv", "id": "alphamissense.predictions", "name": "AlphaMissense Variant Predictions", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://zenodo.org/records/10813168"}, {"category": "ProcessProduct", "description": "Open-source implementation of the AlphaMissense model used to predict the pathogenicity of missense variants, released for academic reproducibility.", "format": "python", "id": "alphamissense.software", "name": "AlphaMissense Software", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://github.com/google-deepmind/alphamissense"}, {"category": "GraphicalInterface", "description": "Web-based viewer for exploring AlphaMissense pathogenicity predictions, allowing users to look up genes and variants and inspect per-residue pathogenicity scores.", "format": "http", "id": "alphamissense.viewer", "name": "AlphaMissense Hosted Viewer", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://alphamissense.hegelab.org/"}, {"category": "DocumentationProduct", "description": "Project overview, methodology, and links to data resources for AlphaMissense, provided by Google DeepMind.", "format": "http", "id": "alphamissense.docs", "name": "AlphaMissense Documentation", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://github.com/google-deepmind/alphamissense"}, {"category": "ProgrammingInterface", "description": "REST API for searching identifiers and special keywords, mapping between data sources with a chain-query syntax, and retrieving entries across the integrated BioBTree databases.", "format": "http", "id": "biobtree.api", "is_public": true, "name": "BioBTree REST API", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "biobtree"}, {"relation_type": "prov:hadPrimarySource", "source": "alphafold"}, {"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}, {"relation_type": "prov:hadPrimarySource", "source": "bao"}, {"relation_type": "prov:hadPrimarySource", "source": "bgee"}, {"relation_type": "prov:hadPrimarySource", "source": "bindingdb"}, {"relation_type": "prov:hadPrimarySource", "source": "biogrid"}, {"relation_type": "prov:hadPrimarySource", "source": "brenda"}, {"relation_type": "prov:hadPrimarySource", "source": "cellphonedb"}, {"relation_type": "prov:hadPrimarySource", "source": "cellxgene"}, {"relation_type": "prov:hadPrimarySource", "source": "chebi"}, {"relation_type": "prov:hadPrimarySource", "source": "chembl"}, {"relation_type": "prov:hadPrimarySource", "source": "cl"}, {"relation_type": "prov:hadPrimarySource", "source": "clinicaltrialsgov"}, {"relation_type": "prov:hadPrimarySource", "source": "clinvar"}, {"relation_type": "prov:hadPrimarySource", "source": "collectri"}, {"relation_type": "prov:hadPrimarySource", "source": "corum"}, {"relation_type": "prov:hadPrimarySource", "source": "ctd"}, {"relation_type": "prov:hadPrimarySource", "source": "dbsnp"}, {"relation_type": "prov:hadPrimarySource", "source": "eco"}, {"relation_type": "prov:hadPrimarySource", "source": "efo"}, {"relation_type": "prov:hadPrimarySource", "source": "encode"}, {"relation_type": "prov:hadPrimarySource", "source": "ensembl"}, {"relation_type": "prov:hadPrimarySource", "source": "expressionatlas"}, {"relation_type": "prov:hadPrimarySource", "source": "fantom5"}, {"relation_type": "prov:hadPrimarySource", "source": "gencc"}, {"relation_type": "prov:hadPrimarySource", "source": "go"}, {"relation_type": "prov:hadPrimarySource", "source": "gwascatalog"}, {"relation_type": "prov:hadPrimarySource", "source": "hgnc"}, {"relation_type": "prov:hadPrimarySource", "source": "hmdb"}, {"relation_type": "prov:hadPrimarySource", "source": "hp"}, {"relation_type": "prov:hadPrimarySource", "source": "intact"}, {"relation_type": "prov:hadPrimarySource", "source": "interpro"}, {"relation_type": "prov:hadPrimarySource", "source": "jaspar"}, {"relation_type": "prov:hadPrimarySource", "source": "lipidmaps"}, {"relation_type": "prov:hadPrimarySource", "source": "mesh"}, {"relation_type": "prov:hadPrimarySource", "source": "mirdb"}, {"relation_type": "prov:hadPrimarySource", "source": "mondo"}, {"relation_type": "prov:hadPrimarySource", "source": "msigdb"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbigene"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbitaxon"}, {"relation_type": "prov:hadPrimarySource", "source": "orphanet"}, {"relation_type": "prov:hadPrimarySource", "source": "pdb"}, {"relation_type": "prov:hadPrimarySource", "source": "pharmgkb"}, {"relation_type": "prov:hadPrimarySource", "source": "pubchem"}, {"relation_type": "prov:hadPrimarySource", "source": "reactome"}, {"relation_type": "prov:hadPrimarySource", "source": "refseq"}, {"relation_type": "prov:hadPrimarySource", "source": "rhea"}, {"relation_type": "prov:hadPrimarySource", "source": "rnacentral"}, {"relation_type": "prov:hadPrimarySource", "source": "signor"}, {"relation_type": "prov:hadPrimarySource", "source": "string"}, {"relation_type": "prov:hadPrimarySource", "source": "surechembl"}, {"relation_type": "prov:hadPrimarySource", "source": "swisslipid"}, {"relation_type": "prov:hadPrimarySource", "source": "uberon"}, {"relation_type": "prov:hadPrimarySource", "source": "uniprot"}], "product_url": "https://sugi.bio/biobtree/api/"}, {"category": "GraphProduct", "compatibility": [{"standard": "biolink", "version": "4.2.1"}], "compression": "gzip", "description": "Human-scoped, Neo4j-ready subgraph of the BioBTree knowledge graph, exported as a biolink-typed KGX graph (~40M nodes / ~132M edges, ~8.3 GB compressed across separate node and edge files). A practical projection of the full graph for human-centric biomedical use. Published on Zenodo.", "edge_count": 132075627, "format": "kgx", "id": "biobtree.graph.human-subgraph", "license": {"id": "https://creativecommons.org/licenses/by-nc-sa/4.0/", "label": "CC-BY-NC-SA-4.0"}, "name": "BioBTree Knowledge Graph - Human Subgraph (KGX)", "node_categories": ["biolink:BiologicalProcess", "biolink:Cell", "biolink:CellLine", "biolink:CellularComponent", "biolink:CodingSequence", "biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:Drug", "biolink:Exon", "biolink:Gene", "biolink:GrossAnatomicalStructure", "biolink:MacromolecularComplex", "biolink:MolecularActivity", "biolink:NoncodingRNAProduct", "biolink:NucleicAcidSequenceMotif", "biolink:OrganismTaxon", "biolink:Pathway", "biolink:PhenotypicFeature", "biolink:Protein", "biolink:ProteinDomain", "biolink:ProteinFamily", "biolink:Publication", "biolink:RegulatoryRegion", "biolink:SequenceVariant", "biolink:SmallMolecule", "biolink:Transcript"], "node_count": 40160474, "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "biobtree"}, {"relation_type": "prov:hadPrimarySource", "source": "alphafold"}, {"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}, {"relation_type": "prov:hadPrimarySource", "source": "bao"}, {"relation_type": "prov:hadPrimarySource", "source": "bgee"}, {"relation_type": "prov:hadPrimarySource", "source": "bindingdb"}, {"relation_type": "prov:hadPrimarySource", "source": "biogrid"}, {"relation_type": "prov:hadPrimarySource", "source": "brenda"}, {"relation_type": "prov:hadPrimarySource", "source": "cellphonedb"}, {"relation_type": "prov:hadPrimarySource", "source": "cellxgene"}, {"relation_type": "prov:hadPrimarySource", "source": "chebi"}, {"relation_type": "prov:hadPrimarySource", "source": "chembl"}, {"relation_type": "prov:hadPrimarySource", "source": "cl"}, {"relation_type": "prov:hadPrimarySource", "source": "clinicaltrialsgov"}, {"relation_type": "prov:hadPrimarySource", "source": "clinvar"}, {"relation_type": "prov:hadPrimarySource", "source": "collectri"}, {"relation_type": "prov:hadPrimarySource", "source": "corum"}, {"relation_type": "prov:hadPrimarySource", "source": "ctd"}, {"relation_type": "prov:hadPrimarySource", "source": "dbsnp"}, {"relation_type": "prov:hadPrimarySource", "source": "eco"}, {"relation_type": "prov:hadPrimarySource", "source": "efo"}, {"relation_type": "prov:hadPrimarySource", "source": "encode"}, {"relation_type": "prov:hadPrimarySource", "source": "ensembl"}, {"relation_type": "prov:hadPrimarySource", "source": "expressionatlas"}, {"relation_type": "prov:hadPrimarySource", "source": "fantom5"}, {"relation_type": "prov:hadPrimarySource", "source": "gencc"}, {"relation_type": "prov:hadPrimarySource", "source": "go"}, {"relation_type": "prov:hadPrimarySource", "source": "gwascatalog"}, {"relation_type": "prov:hadPrimarySource", "source": "hgnc"}, {"relation_type": "prov:hadPrimarySource", "source": "hmdb"}, {"relation_type": "prov:hadPrimarySource", "source": "hp"}, {"relation_type": "prov:hadPrimarySource", "source": "intact"}, {"relation_type": "prov:hadPrimarySource", "source": "interpro"}, {"relation_type": "prov:hadPrimarySource", "source": "jaspar"}, {"relation_type": "prov:hadPrimarySource", "source": "lipidmaps"}, {"relation_type": "prov:hadPrimarySource", "source": "mesh"}, {"relation_type": "prov:hadPrimarySource", "source": "mirdb"}, {"relation_type": "prov:hadPrimarySource", "source": "mondo"}, {"relation_type": "prov:hadPrimarySource", "source": "msigdb"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbigene"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbitaxon"}, {"relation_type": "prov:hadPrimarySource", "source": "orphanet"}, {"relation_type": "prov:hadPrimarySource", "source": "pdb"}, {"relation_type": "prov:hadPrimarySource", "source": "pharmgkb"}, {"relation_type": "prov:hadPrimarySource", "source": "pubchem"}, {"relation_type": "prov:hadPrimarySource", "source": "reactome"}, {"relation_type": "prov:hadPrimarySource", "source": "refseq"}, {"relation_type": "prov:hadPrimarySource", "source": "rhea"}, {"relation_type": "prov:hadPrimarySource", "source": "rnacentral"}, {"relation_type": "prov:hadPrimarySource", "source": "signor"}, {"relation_type": "prov:hadPrimarySource", "source": "string"}, {"relation_type": "prov:hadPrimarySource", "source": "surechembl"}, {"relation_type": "prov:hadPrimarySource", "source": "swisslipid"}, {"relation_type": "prov:hadPrimarySource", "source": "uberon"}, {"relation_type": "prov:hadPrimarySource", "source": "uniprot"}], "predicates": ["biolink:actively_involved_in", "biolink:affects", "biolink:associated_with", "biolink:close_match", "biolink:derives_from", "biolink:directly_physically_interacts_with", "biolink:enables", "biolink:expressed_in", "biolink:gene_associated_with_condition", "biolink:gene_product_of", "biolink:has_adverse_event", "biolink:has_gene_product", "biolink:has_part", "biolink:has_participant", "biolink:has_phenotype", "biolink:in_clinical_trials_for", "biolink:in_taxon", "biolink:interacts_with", "biolink:is_sequence_variant_of", "biolink:located_in", "biolink:member_of", "biolink:mentions", "biolink:orthologous_to", "biolink:paralogous_to", "biolink:participates_in", "biolink:physically_interacts_with", "biolink:related_to", "biolink:same_as", "biolink:subclass_of", "biolink:transcribed_from", "biolink:translates_to", "biolink:treats_or_applied_or_studied_to_treat"], "product_url": "https://zenodo.org/records/20816742"}]
{"activity_status": "active", "category": "DataSource", "creation_date": "2026-06-15T00:00:00Z", "description": "AlphaMissense is a deep learning model from Google DeepMind that predicts the pathogenicity of missense variants across the human proteome. It provides precomputed pathogenicity scores and classifications (likely benign, likely pathogenic, or ambiguous) for all approximately 71 million possible single amino acid substitutions in the human genome, as well as substitution effect scores for the entire proteome. The predictions are distributed via bulk download and accessible through hosted viewers and genome browsers.", "domains": ["genomics", "clinical", "proteomics", "precision medicine", "biomedical"], "homepage_url": "https://github.com/google-deepmind/alphamissense", "id": "alphamissense", "last_modified_date": "2026-06-15T00:00:00Z", "layout": "resource_detail", "license": {"id": "https://creativecommons.org/licenses/by/4.0/", "label": "CC BY 4.0", "logo": "http://mirrors.creativecommons.org/presskit/buttons/80x15/png/by.png"}, "name": "AlphaMissense", "products": [{"category": "Product", "description": "Precomputed AlphaMissense pathogenicity predictions for all possible human missense variants and amino acid substitutions, including per-variant pathogenicity scores and class labels. Distributed as tab-separated value files via Zenodo and Google Cloud Storage.", "format": "tsv", "id": "alphamissense.predictions", "name": "AlphaMissense Variant Predictions", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://zenodo.org/records/10813168"}, {"category": "ProcessProduct", "description": "Open-source implementation of the AlphaMissense model used to predict the pathogenicity of missense variants, released for academic reproducibility.", "format": "python", "id": "alphamissense.software", "name": "AlphaMissense Software", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://github.com/google-deepmind/alphamissense"}, {"category": "GraphicalInterface", "description": "Web-based viewer for exploring AlphaMissense pathogenicity predictions, allowing users to look up genes and variants and inspect per-residue pathogenicity scores.", "format": "http", "id": "alphamissense.viewer", "name": "AlphaMissense Hosted Viewer", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://alphamissense.hegelab.org/"}, {"category": "DocumentationProduct", "description": "Project overview, methodology, and links to data resources for AlphaMissense, provided by Google DeepMind.", "format": "http", "id": "alphamissense.docs", "name": "AlphaMissense Documentation", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}], "product_url": "https://github.com/google-deepmind/alphamissense"}, {"category": "ProgrammingInterface", "description": "REST API for searching identifiers and special keywords, mapping between data sources with a chain-query syntax, and retrieving entries across the integrated BioBTree databases.", "format": "http", "id": "biobtree.api", "is_public": true, "name": "BioBTree REST API", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "biobtree"}, {"relation_type": "prov:hadPrimarySource", "source": "alphafold"}, {"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}, {"relation_type": "prov:hadPrimarySource", "source": "bao"}, {"relation_type": "prov:hadPrimarySource", "source": "bgee"}, {"relation_type": "prov:hadPrimarySource", "source": "bindingdb"}, {"relation_type": "prov:hadPrimarySource", "source": "biogrid"}, {"relation_type": "prov:hadPrimarySource", "source": "brenda"}, {"relation_type": "prov:hadPrimarySource", "source": "cellphonedb"}, {"relation_type": "prov:hadPrimarySource", "source": "cellxgene"}, {"relation_type": "prov:hadPrimarySource", "source": "chebi"}, {"relation_type": "prov:hadPrimarySource", "source": "chembl"}, {"relation_type": "prov:hadPrimarySource", "source": "cl"}, {"relation_type": "prov:hadPrimarySource", "source": "clinicaltrialsgov"}, {"relation_type": "prov:hadPrimarySource", "source": "clinvar"}, {"relation_type": "prov:hadPrimarySource", "source": "collectri"}, {"relation_type": "prov:hadPrimarySource", "source": "corum"}, {"relation_type": "prov:hadPrimarySource", "source": "ctd"}, {"relation_type": "prov:hadPrimarySource", "source": "dbsnp"}, {"relation_type": "prov:hadPrimarySource", "source": "eco"}, {"relation_type": "prov:hadPrimarySource", "source": "efo"}, {"relation_type": "prov:hadPrimarySource", "source": "encode"}, {"relation_type": "prov:hadPrimarySource", "source": "ensembl"}, {"relation_type": "prov:hadPrimarySource", "source": "expressionatlas"}, {"relation_type": "prov:hadPrimarySource", "source": "fantom5"}, {"relation_type": "prov:hadPrimarySource", "source": "gencc"}, {"relation_type": "prov:hadPrimarySource", "source": "go"}, {"relation_type": "prov:hadPrimarySource", "source": "gwascatalog"}, {"relation_type": "prov:hadPrimarySource", "source": "hgnc"}, {"relation_type": "prov:hadPrimarySource", "source": "hmdb"}, {"relation_type": "prov:hadPrimarySource", "source": "hp"}, {"relation_type": "prov:hadPrimarySource", "source": "intact"}, {"relation_type": "prov:hadPrimarySource", "source": "interpro"}, {"relation_type": "prov:hadPrimarySource", "source": "jaspar"}, {"relation_type": "prov:hadPrimarySource", "source": "lipidmaps"}, {"relation_type": "prov:hadPrimarySource", "source": "mesh"}, {"relation_type": "prov:hadPrimarySource", "source": "mirdb"}, {"relation_type": "prov:hadPrimarySource", "source": "mondo"}, {"relation_type": "prov:hadPrimarySource", "source": "msigdb"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbigene"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbitaxon"}, {"relation_type": "prov:hadPrimarySource", "source": "orphanet"}, {"relation_type": "prov:hadPrimarySource", "source": "pdb"}, {"relation_type": "prov:hadPrimarySource", "source": "pharmgkb"}, {"relation_type": "prov:hadPrimarySource", "source": "pubchem"}, {"relation_type": "prov:hadPrimarySource", "source": "reactome"}, {"relation_type": "prov:hadPrimarySource", "source": "refseq"}, {"relation_type": "prov:hadPrimarySource", "source": "rhea"}, {"relation_type": "prov:hadPrimarySource", "source": "rnacentral"}, {"relation_type": "prov:hadPrimarySource", "source": "signor"}, {"relation_type": "prov:hadPrimarySource", "source": "string"}, {"relation_type": "prov:hadPrimarySource", "source": "surechembl"}, {"relation_type": "prov:hadPrimarySource", "source": "swisslipid"}, {"relation_type": "prov:hadPrimarySource", "source": "uberon"}, {"relation_type": "prov:hadPrimarySource", "source": "uniprot"}], "product_url": "https://sugi.bio/biobtree/api/"}, {"category": "GraphProduct", "compatibility": [{"standard": "biolink", "version": "4.2.1"}], "compression": "gzip", "description": "Human-scoped, Neo4j-ready subgraph of the BioBTree knowledge graph, exported as a biolink-typed KGX graph (~40M nodes / ~132M edges, ~8.3 GB compressed across separate node and edge files). A practical projection of the full graph for human-centric biomedical use. Published on Zenodo.", "edge_count": 132075627, "format": "kgx", "id": "biobtree.graph.human-subgraph", "license": {"id": "https://creativecommons.org/licenses/by-nc-sa/4.0/", "label": "CC-BY-NC-SA-4.0"}, "name": "BioBTree Knowledge Graph - Human Subgraph (KGX)", "node_categories": ["biolink:BiologicalProcess", "biolink:Cell", "biolink:CellLine", "biolink:CellularComponent", "biolink:CodingSequence", "biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:Drug", "biolink:Exon", "biolink:Gene", "biolink:GrossAnatomicalStructure", "biolink:MacromolecularComplex", "biolink:MolecularActivity", "biolink:NoncodingRNAProduct", "biolink:NucleicAcidSequenceMotif", "biolink:OrganismTaxon", "biolink:Pathway", "biolink:PhenotypicFeature", "biolink:Protein", "biolink:ProteinDomain", "biolink:ProteinFamily", "biolink:Publication", "biolink:RegulatoryRegion", "biolink:SequenceVariant", "biolink:SmallMolecule", "biolink:Transcript"], "node_count": 40160474, "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "biobtree"}, {"relation_type": "prov:hadPrimarySource", "source": "alphafold"}, {"relation_type": "prov:hadPrimarySource", "source": "alphamissense"}, {"relation_type": "prov:hadPrimarySource", "source": "bao"}, {"relation_type": "prov:hadPrimarySource", "source": "bgee"}, {"relation_type": "prov:hadPrimarySource", "source": "bindingdb"}, {"relation_type": "prov:hadPrimarySource", "source": "biogrid"}, {"relation_type": "prov:hadPrimarySource", "source": "brenda"}, {"relation_type": "prov:hadPrimarySource", "source": "cellphonedb"}, {"relation_type": "prov:hadPrimarySource", "source": "cellxgene"}, {"relation_type": "prov:hadPrimarySource", "source": "chebi"}, {"relation_type": "prov:hadPrimarySource", "source": "chembl"}, {"relation_type": "prov:hadPrimarySource", "source": "cl"}, {"relation_type": "prov:hadPrimarySource", "source": "clinicaltrialsgov"}, {"relation_type": "prov:hadPrimarySource", "source": "clinvar"}, {"relation_type": "prov:hadPrimarySource", "source": "collectri"}, {"relation_type": "prov:hadPrimarySource", "source": "corum"}, {"relation_type": "prov:hadPrimarySource", "source": "ctd"}, {"relation_type": "prov:hadPrimarySource", "source": "dbsnp"}, {"relation_type": "prov:hadPrimarySource", "source": "eco"}, {"relation_type": "prov:hadPrimarySource", "source": "efo"}, {"relation_type": "prov:hadPrimarySource", "source": "encode"}, {"relation_type": "prov:hadPrimarySource", "source": "ensembl"}, {"relation_type": "prov:hadPrimarySource", "source": "expressionatlas"}, {"relation_type": "prov:hadPrimarySource", "source": "fantom5"}, {"relation_type": "prov:hadPrimarySource", "source": "gencc"}, {"relation_type": "prov:hadPrimarySource", "source": "go"}, {"relation_type": "prov:hadPrimarySource", "source": "gwascatalog"}, {"relation_type": "prov:hadPrimarySource", "source": "hgnc"}, {"relation_type": "prov:hadPrimarySource", "source": "hmdb"}, {"relation_type": "prov:hadPrimarySource", "source": "hp"}, {"relation_type": "prov:hadPrimarySource", "source": "intact"}, {"relation_type": "prov:hadPrimarySource", "source": "interpro"}, {"relation_type": "prov:hadPrimarySource", "source": "jaspar"}, {"relation_type": "prov:hadPrimarySource", "source": "lipidmaps"}, {"relation_type": "prov:hadPrimarySource", "source": "mesh"}, {"relation_type": "prov:hadPrimarySource", "source": "mirdb"}, {"relation_type": "prov:hadPrimarySource", "source": "mondo"}, {"relation_type": "prov:hadPrimarySource", "source": "msigdb"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbigene"}, {"relation_type": "prov:hadPrimarySource", "source": "ncbitaxon"}, {"relation_type": "prov:hadPrimarySource", "source": "orphanet"}, {"relation_type": "prov:hadPrimarySource", "source": "pdb"}, {"relation_type": "prov:hadPrimarySource", "source": "pharmgkb"}, {"relation_type": "prov:hadPrimarySource", "source": "pubchem"}, {"relation_type": "prov:hadPrimarySource", "source": "reactome"}, {"relation_type": "prov:hadPrimarySource", "source": "refseq"}, {"relation_type": "prov:hadPrimarySource", "source": "rhea"}, {"relation_type": "prov:hadPrimarySource", "source": "rnacentral"}, {"relation_type": "prov:hadPrimarySource", "source": "signor"}, {"relation_type": "prov:hadPrimarySource", "source": "string"}, {"relation_type": "prov:hadPrimarySource", "source": "surechembl"}, {"relation_type": "prov:hadPrimarySource", "source": "swisslipid"}, {"relation_type": "prov:hadPrimarySource", "source": "uberon"}, {"relation_type": "prov:hadPrimarySource", "source": "uniprot"}], "predicates": ["biolink:actively_involved_in", "biolink:affects", "biolink:associated_with", "biolink:close_match", "biolink:derives_from", "biolink:directly_physically_interacts_with", "biolink:enables", "biolink:expressed_in", "biolink:gene_associated_with_condition", "biolink:gene_product_of", "biolink:has_adverse_event", "biolink:has_gene_product", "biolink:has_part", "biolink:has_participant", "biolink:has_phenotype", "biolink:in_clinical_trials_for", "biolink:in_taxon", "biolink:interacts_with", "biolink:is_sequence_variant_of", "biolink:located_in", "biolink:member_of", "biolink:mentions", "biolink:orthologous_to", "biolink:paralogous_to", "biolink:participates_in", "biolink:physically_interacts_with", "biolink:related_to", "biolink:same_as", "biolink:subclass_of", "biolink:transcribed_from", "biolink:translates_to", "biolink:treats_or_applied_or_studied_to_treat"], "product_url": "https://zenodo.org/records/20816742"}], "publications": [{"authors": ["Jun Cheng", "Guido Novati", "Joshua Pan", "Clare Bycroft", "Akvil\u0117 \u017demgulyt\u0117", "Taylor Applebaum", "Alexander Pritzel", "Lai Hong Wong", "Michal Zielinski", "Tobias Sargeant", "Rosalia G. Schneider", "Andrew W. Senior", "John Jumper", "Demis Hassabis", "Pushmeet Kohli", "\u017diga Avsec"], "doi": "doi:10.1126/science.adg7492", "id": "doi:10.1126/science.adg7492", "journal": "Science", "preferred": true, "title": "Accurate proteome-wide missense variant effect prediction with AlphaMissense", "year": "2023"}], "repository": "https://github.com/google-deepmind/alphamissense", "taxon": ["NCBITaxon:9606"]}