G81V (p.Gly81Val) variant of ATXN2 (Ataxin-2)
G81V (p.Gly81Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
G81V (p.Gly81Val) variant details
- p.Gly81Val
- gnomAD rs1279118019
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)