Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Luciana R MontenegroAntonio Marcondes LerarioMirian Yumie NishiAlexander Augusto de Lima JorgeBerenice Bilharinho de MendoncaPublished in: Clinics (Sao Paulo, Brazil) (2021)
Computational algorithms are important tools for SNV analysis, but their correlation with functional studies not consistent. In the present analysis, the best performing tools (based on accuracy, precision, and specificity) were Mutation Assessor, MutPred, and SNPs&GO, which presented the best concordance with functional studies.