S35R (p.Ser35Arg) variant of ATXN1 (Ataxin-1)
S35R (p.Ser35Arg) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- ESP rs140257227
- ExAC rs140257227
- TOPMed rs140257227
- gnomAD rs140257227
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available