A153T (p.Ala153Thr) variant of ATXN3 (Ataxin-3)
A153T (p.Ala153Thr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A153T (p.Ala153Thr) variant details
- p.Ala153Thr
- ExAC rs761316840
- TOPMed rs761316840
- gnomAD rs761316840
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)