L1976R (p.Leu1976Arg) variant of SETX (Helicase senataxin)
L1976R (p.Leu1976Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L1976R (p.Leu1976Arg) variant details
- p.Leu1976Arg
- rs121434379
- ClinGen CA252189
- ClinVar RCV000002382
- ClinVar RCV001781169
- Pathogenic
- not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.91
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Spinocerebellar ataxia, autosomal recessive, with)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. (PMID 15732101)
- Cited in: Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. (PMID 17159128)