T14I (p.Thr14Ile) variant of SETX (Helicase senataxin)
T14I (p.Thr14Ile) in SETX (Helicase senataxin) 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 and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- TOPMed rs770310239
- gnomAD rs770310239
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.39
- CADD 23.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available