A catalogue of genetic mutations to help pinpoint the cause of diseases

We've released a catalogue of ‘missense’ mutations where researchers can learn more about what effect they may have. Missense variants are genetic mutations that can affect the function of human proteins. In some cases, they can lead to diseases such as cystic fibrosis, sickle-cell anaemia, or cancer. The AlphaMissense catalogue was developed using AlphaMissense, our new AI model which classifies missense variants.