T54S (p.Thr54Ser) variant of ATXN3 (Ataxin-3)
T54S (p.Thr54Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- ExAC rs776899714
- TOPMed rs776899714
- gnomAD rs776899714
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)