P58L (p.Pro58Leu) variant of ATXN2 (Ataxin-2)
P58L (p.Pro58Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- Ensembl rs2135864983
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 16.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)