P31A (p.Pro31Ala) variant of ATXN1 (Ataxin-1)
P31A (p.Pro31Ala) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- gnomAD rs1212904671
- Missense
- Variant Prioritization Score for Impact Estimate 0.0459
- REVEL 0.03
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available