T102P (p.Thr102Pro) variant of SETX (Helicase senataxin)
T102P (p.Thr102Pro) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T102P (p.Thr102Pro) variant details
- p.Thr102Pro
- ExAC rs770962447
- TOPMed rs770962447
- gnomAD rs770962447
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.64
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available