rs186160250

Description

The S4050F variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S4050F variant is observed in 1/16042 (0.006%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The S4050F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S4050F as a variant of uncertain significance.