S95F (p.Ser95Phe) variant of ATXN1 (Ataxin-1)
S95F (p.Ser95Phe) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S95F (p.Ser95Phe) variant details
- p.Ser95Phe
- cosmic curated COSV55223
- TOPMed rs139030983
- gnomAD rs139030983
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.25
- AlphaMissense 0.36
- MetaLR 0.27
- MetaSVM -0.53
- CADD 24.10
- PolyPhen-2 0.99
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available