G58V (p.Gly58Val) variant of ATXN1 (Ataxin-1)
G58V (p.Gly58Val) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- gnomAD rs1417757332
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.20
- CADD 15.10
- PolyPhen-2 0.11
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available