{"entity":{"id":"alphamissense","kind":"technology","name":"AlphaMissense","aka":[],"tldr":"Scored all 71 million possible single-letter protein changes in humans as likely harmful or benign.","summary":"AlphaMissense is a Google DeepMind model derived from AlphaFold and fine-tuned on population variant frequencies to score whether a missense change is likely pathogenic or benign. The Science 2023 paper released classifications for all 71 million possible single-amino-acid substitutions in the human proteome, a complete catalogue rather than a tool that must be run per variant. Its scores are widely used to triage variants of uncertain significance in cancer genes, helping laboratories decide which findings deserve follow-up. The key caveat is that pathogenicity is not the same as actionability: a variant predicted to damage a protein does not tell a clinician whether a drug targets it or whether it changes management. For a newcomer: AlphaMissense has pre-scored every possible single-letter protein change so laboratories can see which ones look harmful.","status":"established","asOf":"2026-09-08","links":[{"label":"Science 2023","url":"https://doi.org/10.1126/science.adg7492"}],"tags":["foundation-model","genome"],"related":[],"cancers":[],"sections":["ai-computation"],"technologies":[],"targets":[],"drugs":[],"companies":["google-deepmind"],"institutions":[],"pathways":[],"terms":["vus"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-cheng-science"],"journals":[],"dependsOn":[],"notes":[],"principle":"AlphaFold-derived model fine-tuned on population variant frequencies.","strengths":["Complete catalogue"],"limitations":["Pathogenicity is not the same as actionability"],"since":2023},"route":"/technologies/alphamissense/","neighbours":{"section":[{"id":"ai-computation","kind":"section","name":"AI & Computation","route":"/fronts/ai-computation/"}],"company":[{"id":"google-deepmind","kind":"company","name":"Google DeepMind (and Google Research)","route":"/companies/google-deepmind/"}],"term":[{"id":"vus","kind":"term","name":"Variant of uncertain significance (VUS)","route":"/terms/vus/"}],"paper":[{"id":"paper-cheng-science","kind":"paper","name":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","route":"/key-papers/paper-cheng-science/"}]}}