Machine Learning-based Prediction of Pathogenicity for Protein Variants in ClinVar Database

The Amissense Tool analyzes and visualizes AlphaMissense pathogenicity scores, integrating AlphaFold structures and ClinVar data. It offers automated pipelines, visualizations, and versatile command-line utilities.

Alpha Missense Scores provides precomputed JSON files with AlphaMissense pathogenicity scores for protein variants. Derived from DeepMind's TSV dataset, these JSON files are can be accessed via HTTP queries. This repository allows efficient data retrieval, bypassing the need for local processing of the original TSV files.