What is AlphaMissense?

Human genetics studies how small changes in DNA affect the body. A missense variant is a single-letter change in DNA that swaps one building block (amino acid) of a protein for another, and the average person carries more than 9,000 of them. Most do little, but a few can cause disease, and it is largely a mystery which ones, because every protein is unique and each lab experiment has to be designed separately. AlphaMissense is an AI model that classifies missense variants as likely pathogenic (disease-causing), likely benign, or uncertain, so researchers can prioritise which variants to study. It was made by Google DeepMind, whose predictions were published on 19 September 2023.

Written from primary sources and reference pages, and checked against them by an independent AI fact-checker. Drafted with AI assistance.