A6S (p.Ala6Ser) variant of ATXN2 (Ataxin-2)
A6S (p.Ala6Ser) 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.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- TOPMed rs1385384243
- gnomAD rs1385384243
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 17.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)