rs771732436

Description

The R464W variant in the POLR3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R464W variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R464W 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R464W as a variant of uncertain significance.