G67V (p.Gly67Val) variant of ATXN3 (Ataxin-3)
G67V (p.Gly67Val) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- ExAC rs773405950
- gnomAD rs773405950
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 26.30
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)