F17L (p.Phe17Leu) variant of SETX (Helicase senataxin)
F17L (p.Phe17Leu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs2539259741
- ClinGen CA375352066
- ClinVar RCV003136627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.45
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available