S66L (p.Ser66Leu) variant of ATXN1 (Ataxin-1)
S66L (p.Ser66Leu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S66L (p.Ser66Leu) variant details
- p.Ser66Leu
- TOPMed rs879654700
- gnomAD rs879654700
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.04
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available