G90V (p.Gly90Val) variant of ATXN2 (Ataxin-2)
G90V (p.Gly90Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G90V (p.Gly90Val) variant details
- p.Gly90Val
- gnomAD rs948619967
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 17.70
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available