T146I (p.Thr146Ile) variant of ATXN3 (Ataxin-3)
T146I (p.Thr146Ile) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
T146I (p.Thr146Ile) variant details
- p.Thr146Ile
- cosmic curated COSV61493
- ExAC rs761263261
- TOPMed rs761263261
- gnomAD rs761263261
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 27.00
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)