I92T (p.Ile92Thr) variant of ATXN3 (Ataxin-3)
I92T (p.Ile92Thr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
I92T (p.Ile92Thr) variant details
- p.Ile92Thr
- ExAC rs768626702
- TOPMed rs768626702
- gnomAD rs768626702
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.70
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)