L54F (p.Leu54Phe) variant of SETX (Helicase senataxin)
L54F (p.Leu54Phe) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD rs1175429740
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.50
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available