Alessia David

Missense3D: leveraging protein structures, including AlphaFold models, to understand the effect of missense variants.

The growing availability of 3D protein structures enables large-scale assessment of missense variants and their phenotypic impact. Missense3D, first developed in 2019, predicts the structural consequences of amino acid substitutions and provides mechanistic explanations by identifying features such as cavities, steric...