L495P (p.Leu495Pro) variant of SETX (Helicase senataxin)
L495P (p.Leu495Pro) 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 0.66 / 1. The record also includes published literature and structural context.
L495P (p.Leu495Pro) variant details
- p.Leu495Pro
- rs2131461009
- ClinGen CA375343126
- ClinVar RCV001872206
- NCI-TCGA TCGA novel
- Pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.87
- MetaLR 0.60
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)