T138S (p.Thr138Ser) variant of ATXN3 (Ataxin-3)
T138S (p.Thr138Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
T138S (p.Thr138Ser) variant details
- p.Thr138Ser
- cosmic curated COSV61494
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the East Asian population (allele frequency 2.5e-05)