H126P (p.His126Pro) variant of SETX (Helicase senataxin)
H126P (p.His126Pro) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
H126P (p.His126Pro) variant details
- p.His126Pro
- rs368932301
- ClinGen CA5298077
- ClinVar RCV002474456
- ClinVar RCV006559483
- Uncertain significance
- not provided; Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.59
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Amyotrophic lateral sclerosis type 4; Spinocerebel)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)