is a Data Source.
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.
genomics, clinical, proteomics, precision medicine, biomedical
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| alphamissense.predictions | AlphaMissense Variant Predictions | 10813168 | Product | tsv | Precomputed AlphaMissense pathogenici... |
| alphamissense.software | AlphaMissense Software | alphamissense | ProcessProduct | python | Open-source implementation of the Alp... |
| alphamissense.viewer | AlphaMissense Hosted Viewer | alphamissense.hegelab.org | GraphicalInterface | http | Web-based viewer for exploring AlphaM... |
| alphamissense.docs ⚠ | AlphaMissense Documentation | alphamissense | DocumentationProduct | http | Project overview, methodology, and li... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| biobtree.api | BioBTree REST API | api | ProgrammingInterface | http | had primary source | REST API for searching identifiers an... |
AlphaMissense is a deep learning model developed by Google DeepMind that predicts the pathogenicity of missense variants across the human proteome. Building on the protein structure modeling approach of AlphaFold, it classifies single amino acid substitutions as likely benign, likely pathogenic, or ambiguous, and assigns a continuous pathogenicity score to each variant.
The resource provides precomputed predictions for all approximately 71 million possible human missense variants, distributed as bulk download files via Zenodo and Google Cloud Storage and accessible through hosted viewers and genome browsers. In KG-Registry, the AlphaMissense products point to the variant prediction dataset, the open-source prediction software, a hosted exploration viewer, and project documentation.
Created: June 15, 2026 | Last modified: June 15, 2026