L1981R (p.Leu1981Arg) variant of SETX (Helicase senataxin)
L1981R (p.Leu1981Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic 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 0.79 / 1. The record also includes population frequency data and structural context.
L1981R (p.Leu1981Arg) variant details
- p.Leu1981Arg
- ExAC rs761941851
- gnomAD rs761941851
- Pathogenic
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.91
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available