AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.

ABSTRACT: Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such that "Variants of Unknown Significance" outnumber those classified as "Pathogenic" or "Likely Pathogenic." Numerous in silico approaches have been developed to predict the functional impact of missense variants to inform clinical interpretation, the latest being AlphaMissense, which uses artificial intelligence methods trained on predicted protein structure. To independently assess the performance of AlphaMissense and 38 other predictors of missense severity, we compared predictions to dat

SUBMITTER: Ljungdahl A 

PROVIDER: S-EPMC10634779 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature