I15S (p.Ile15Ser) variant of SETX (Helicase senataxin)
I15S (p.Ile15Ser) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I15S (p.Ile15Ser) variant details
- p.Ile15Ser
- ExAC rs770780238
- gnomAD rs770780238
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.23
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available