S79N (p.Ser79Asn) variant of ATXN2 (Ataxin-2)
S79N (p.Ser79Asn) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S79N (p.Ser79Asn) variant details
- p.Ser79Asn
- TOPMed rs1312124600
- gnomAD rs1312124600
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 22.70
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available