T54A (p.Thr54Ala) variant of ATXN3 (Ataxin-3)
T54A (p.Thr54Ala) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- ExAC rs776899714
- TOPMed rs776899714
- gnomAD rs776899714
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 17.90
- PolyPhen-2 0.05
- SIFT 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)