rs368165922

Description

This sequence change replaces isoleucine with asparagine at codon 287 of the CASQ2 protein (p.Ile287Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is present in population databases (rs368165922, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.