rs772800358

Description

This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 100 of the PRPF4 protein (p.Asn100Ser). This variant is present in population databases (rs772800358, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1040623). 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.