I162V (p.Ile162Val) variant of ATXN3 (Ataxin-3)
I162V (p.Ile162Val) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
I162V (p.Ile162Val) variant details
- p.Ile162Val
- ExAC rs777729152
- gnomAD rs777729152
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)