R2H (p.Arg2His) variant of ATXN2 (Ataxin-2)
R2H (p.Arg2His) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R2H (p.Arg2His) variant details
- p.Arg2His
- gnomAD rs1208754584
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 20.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)