R1294C (p.Arg1294Cys) variant of SETX (Helicase senataxin)
R1294C (p.Arg1294Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R1294C (p.Arg1294Cys) variant details
- p.Arg1294Cys
- rs267607044
- ClinGen CA027386
- ClinVar RCV000002384
- ClinVar RCV000790202
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (PMID 16717225)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)