R53G (p.Arg53Gly) variant of ATXN1 (Ataxin-1)
R53G (p.Arg53Gly) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- ExAC rs779170808
- TOPMed rs779170808
- gnomAD rs779170808
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available