G61R (p.Gly61Arg) variant of ATXN1 (Ataxin-1)
G61R (p.Gly61Arg) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- TOPMed rs1760891369
- gnomAD rs1760891369
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.02
- CADD 17.80
- PolyPhen-2 0.04
- SIFT 0.49
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available