C172R (p.Cys172Arg) variant of ATXN3 (Ataxin-3)
C172R (p.Cys172Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
C172R (p.Cys172Arg) variant details
- p.Cys172Arg
- ExAC rs779942460
- gnomAD rs779942460
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)