G59R (p.Gly59Arg) variant of ATXN2 (Ataxin-2)
G59R (p.Gly59Arg) 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 0.41 / 1. The record also includes population frequency data.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- cosmic curated COSV10530
- Ensembl rs905904179
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 22.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available