T102I (p.Thr102Ile) variant of SETX (Helicase senataxin)
T102I (p.Thr102Ile) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T102I (p.Thr102Ile) variant details
- p.Thr102Ile
- ESP rs372956007
- ExAC rs372956007
- gnomAD rs372956007
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.31
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available