P63S (p.Pro63Ser) variant of ATXN2 (Ataxin-2)
P63S (p.Pro63Ser) 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.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- TOPMed rs1183618784
- gnomAD rs1183618784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 22.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)