L389S (p.Leu389Ser) variant of SETX (Helicase senataxin)
L389S (p.Leu389Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
L389S (p.Leu389Ser) variant details
- p.Leu389Ser
- rs29001584
- ClinGen CA252183
- ClinVar RCV000002379
- ClinVar RCV000644828
- Pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.90
- MetaLR 0.69
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Pathogenic (in ALS4)
- UniProt: Pathogenic (in ALS4)
- Structural context available
- Cited in: DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (PMID 15106121)
- Cited in: A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2… (PMID 24105744)