P103S (p.Pro103Ser) variant of ATXN1 (Ataxin-1)
P103S (p.Pro103Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P103S (p.Pro103Ser) variant details
- p.Pro103Ser
- TOPMed rs1237734956
- gnomAD rs1237734956
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.53
- AlphaMissense 0.83
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available