R66P (p.Arg66Pro) variant of ATXN2 (Ataxin-2)
R66P (p.Arg66Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R66P (p.Arg66Pro) variant details
- p.Arg66Pro
- cosmic curated COSV10530
- gnomAD rs1566091838
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 15.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)