rs201770060

Description

This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5 of the SNAP25 protein (p.Ala5Thr). This variant is present in population databases (rs201770060, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SNAP25-related conditions. ClinVar contains an entry for this variant (Variation ID: 576987). 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 tolerated. 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.