H126R (p.His126Arg) variant of SETX (Helicase senataxin)
H126R (p.His126Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H126R (p.His126Arg) variant details
- p.His126Arg
- rs368932301
- ClinGen CA5298078
- ClinVar RCV001093201
- ClinVar RCV001242996
- Conflicting interpretations
- not provided; Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.54
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Amyotrophic lateral sclerosis type 4; Spinocerebel)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)