A44P (p.Ala44Pro) variant of ATXN1 (Ataxin-1)
A44P (p.Ala44Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- gnomAD rs1760893886
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- AlphaMissense 0.30
- MetaLR 0.34
- MetaSVM -0.28
- CADD 22.20
- PolyPhen-2 0.97
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available