P63A (p.Pro63Ala) variant of ATXN2 (Ataxin-2)
P63A (p.Pro63Ala) 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 0.49 / 1. The record also includes population frequency data.
P63A (p.Pro63Ala) variant details
- p.Pro63Ala
- TOPMed rs1183618784
- gnomAD rs1183618784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 22.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)