L98P (p.Leu98Pro) variant of SETX (Helicase senataxin)
L98P (p.Leu98Pro) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L98P (p.Leu98Pro) variant details
- p.Leu98Pro
- ExAC rs759736109
- TOPMed rs759736109
- gnomAD rs759736109
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.52
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available