A14S (p.Ala14Ser) variant of ATXN2 (Ataxin-2)
A14S (p.Ala14Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- TOPMed rs915579754
- gnomAD rs915579754
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 13.70
- Most common in the REMAINING population (allele frequency 0.00048)