G81C (p.Gly81Cys) variant of ATXN2 (Ataxin-2)
G81C (p.Gly81Cys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
G81C (p.Gly81Cys) variant details
- p.Gly81Cys
- gnomAD rs1309865539
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 24.70
- PolyPhen-2 0.67
- SIFT 0.01
- Population evidence available