R94G (p.Arg94Gly) variant of ATXN1 (Ataxin-1)
R94G (p.Arg94Gly) 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.
R94G (p.Arg94Gly) variant details
- p.Arg94Gly
- ESP rs142423255
- ExAC rs142423255
- TOPMed rs142423255
- gnomAD rs142423255
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.28
- CADD 24.00
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available