S38R (p.Ser38Arg) variant of ATXN2 (Ataxin-2)
S38R (p.Ser38Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- TOPMed rs1259513091
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 17.70
- Most common in the South Asian population (allele frequency 1.2e-05)