L115V (p.Leu115Val) variant of SETX (Helicase senataxin)
L115V (p.Leu115Val) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L115V (p.Leu115Val) variant details
- p.Leu115Val
- rs538372427
- ClinGen CA5298080
- ClinVar RCV001267159
- ClinVar RCV001880135
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.53
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)