P57L (p.Pro57Leu) variant of ATXN2 (Ataxin-2)
P57L (p.Pro57Leu) 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.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- TOPMed rs1390837161
- gnomAD rs1390837161
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)