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AlphaMissense

Scored all 71 million possible single-letter protein changes in humans as likely harmful or benign.

Science 2023; classifications are widely used to triage variants of uncertain significance in cancer genes.

Generic schematic · not to scale · placeholder for the ai computation front
Flagged finding · Neural network

How it works

AlphaFold-derived model fine-tuned on population variant frequencies.

Strengths
  • Complete catalogue
Limitations
  • Pathogenicity is not the same as actionability
Since
2023

Latest papers

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Latest papers · live from Europe PMC
Open in Europe PMC

Query for this technology: (TITLE:"AlphaMissense" OR ABSTRACT:"AlphaMissense") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about AlphaMissense, not a curated reading list.

Connected

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