A153S (p.Ala153Ser) variant of ATXN3 (Ataxin-3)
A153S (p.Ala153Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
A153S (p.Ala153Ser) variant details
- p.Ala153Ser
- ExAC rs761316840
- TOPMed rs761316840
- gnomAD rs761316840
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)