R103S (p.Arg103Ser) variant of ATXN3 (Ataxin-3)
R103S (p.Arg103Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
R103S (p.Arg103Ser) variant details
- p.Arg103Ser
- Ensembl rs962365609
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)