P55H (p.Pro55His) variant of ATXN2 (Ataxin-2)
P55H (p.Pro55His) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
P55H (p.Pro55His) variant details
- p.Pro55His
- Ensembl rs1592946973
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 23.20
- Population evidence available