R94W (p.Arg94Trp) variant of ATXN1 (Ataxin-1)
R94W (p.Arg94Trp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R94W (p.Arg94Trp) variant details
- p.Arg94Trp
- ESP rs142423255
- ExAC rs142423255
- TOPMed rs142423255
- gnomAD rs142423255
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.31
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available