A136V (p.Ala136Val) variant of SETX (Helicase senataxin)
A136V (p.Ala136Val) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Spinocerebellar ataxia, autosomal recessive, with axona. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A136V (p.Ala136Val) variant details
- p.Ala136Val
- rs750537710
- ClinGen CA5298043
- ClinVar RCV002323102
- ClinVar RCV003094510
- Conflicting interpretations
- Inborn genetic diseases; Spinocerebellar ataxia, autosomal recessive, with axona
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.31
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Spinocerebellar ataxia, autosomal reces)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)