F159L (p.Phe159Leu) variant of SETX (Helicase senataxin)
F159L (p.Phe159Leu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F159L (p.Phe159Leu) variant details
- p.Phe159Leu
- rs1473646250
- ClinGen CA375350292
- ClinVar RCV001915019
- gnomAD rs1473646250
- Benign
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.09
- SIFT 0.30
- ClinVar: Benign (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)