P56L (p.Pro56Leu) variant of ATXN2 (Ataxin-2)
P56L (p.Pro56Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- TOPMed rs915859049
- gnomAD rs915859049
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 23.20
- Most common in the REMAINING population (allele frequency 0.00048)