L114F (p.Leu114Phe) variant of SETX (Helicase senataxin)
L114F (p.Leu114Phe) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L114F (p.Leu114Phe) variant details
- p.Leu114Phe
- gnomAD rs1188017352
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.41
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available