R33W (p.Arg33Trp) variant of ATXN2 (Ataxin-2)
R33W (p.Arg33Trp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- cosmic curated COSV66483
- TOPMed rs1338584860
- gnomAD rs1338584860
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 22.60
- Most common in the 1KG:MXL population (allele frequency 0.0081)