P11H (p.Pro11His) variant of ATXN2 (Ataxin-2)
P11H (p.Pro11His) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
P11H (p.Pro11His) variant details
- p.Pro11His
- TOPMed rs1355937464
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 16.10
- Population evidence available