G57D (p.Gly57Asp) variant of ATXN1 (Ataxin-1)
G57D (p.Gly57Asp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- gnomAD rs1760892116
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.58
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available