F1083L (p.Phe1083Leu) variant of SETX (Helicase senataxin)
F1083L (p.Phe1083Leu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
F1083L (p.Phe1083Leu) variant details
- p.Phe1083Leu
- rs2131444517
- ClinGen CA375331267
- ClinVar RCV001353342
- Ensembl rs2131444517
- Pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)