N82S (p.Asn82Ser) variant of ATXN2 (Ataxin-2)
N82S (p.Asn82Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
N82S (p.Asn82Ser) variant details
- p.Asn82Ser
- TOPMed rs1885137251
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 20.80
- Most common in the East Asian population (allele frequency 2.5e-05)