Deciphering missense coding variants with AlphaMissense

Genetic diagnosis promises to guide treatment and manage expectations for patients and physicians. Yet even when a variant in a disease gene is identified, the assignment of pathogenic impact is not always possible.1 Of the 215 million possible substitutions in approximately 19,900 genes, 71 million are missense mutations that result in an amino acid substitution rather than a stop codon or a frameshift.2 Only 4 million missense variants have been observed, of which approximately 2% have been clinically classified as pathogenic or benign by testing companies and collected in the public ClinVar repository.

Source: Kidney International - April 10, 2024 Category: Urology & Nephrology Authors: Zhicheng Pan, Chandra L. Theesfeld Tags: Nephrology Digest Source Type: research