L41F (p.Leu41Phe) variant of SETX (Helicase senataxin)
L41F (p.Leu41Phe) 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 0.32 / 1. The record also includes population frequency data and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- 1000Genomes rs188406893
- ESP rs188406893
- ExAC rs188406893
- TOPMed rs188406893
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.43
- CADD 14.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available