rs200149526

Description

This sequence change replaces glutamine with arginine at codon 333 of the FGD4 protein (p.Gln333Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs200149526, ExAC 0.01%). This variant has not been reported in the literature in individuals with FGD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 447323). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.