P64L (p.Pro64Leu) variant of ATXN2 (Ataxin-2)
P64L (p.Pro64Leu) in ATXN2 (Ataxin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- gnomAD rs1435423211
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 22.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)