P60A (p.Pro60Ala) variant of ATXN2 (Ataxin-2)
P60A (p.Pro60Ala) 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 0.48 / 1. The record also includes population frequency data.
P60A (p.Pro60Ala) variant details
- p.Pro60Ala
- gnomAD rs924331402
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 22.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)