I15V (p.Ile15Val) variant of SETX (Helicase senataxin)
I15V (p.Ile15Val) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs151040199
- ClinGen CA5298146
- ClinVar RCV001848122
- ClinVar RCV002034741
- Conflicting interpretations
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.25
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)