P56T (p.Pro56Thr) variant of ATXN2 (Ataxin-2)
P56T (p.Pro56Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
P56T (p.Pro56Thr) variant details
- p.Pro56Thr
- TOPMed rs1426185120
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 22.70
- Population evidence available