T32I (p.Thr32Ile) variant of SETX (Helicase senataxin)
T32I (p.Thr32Ile) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- TOPMed rs1332915918
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available