P71L (p.Pro71Leu) variant of ATXN2 (Ataxin-2)
P71L (p.Pro71Leu) in ATXN2 (Ataxin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- TOPMed rs879391188
- gnomAD rs879391188
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 18.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)