G83C (p.Gly83Cys) variant of ATXN2 (Ataxin-2)
G83C (p.Gly83Cys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
G83C (p.Gly83Cys) variant details
- p.Gly83Cys
- gnomAD rs1365170103
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)