S65Y (p.Ser65Tyr) variant of ATXN2 (Ataxin-2)
S65Y (p.Ser65Tyr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
S65Y (p.Ser65Tyr) variant details
- p.Ser65Tyr
- TOPMed rs1290735356
- gnomAD rs1290735356
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 20.60
- Most common in the REMAINING population (allele frequency 0.00048)