I15F (p.Ile15Phe) variant of SETX (Helicase senataxin)
I15F (p.Ile15Phe) 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.
I15F (p.Ile15Phe) variant details
- p.Ile15Phe
- rs151040199
- ClinGen CA5298145
- ClinVar RCV002333717
- ClinVar RCV003102579
- Conflicting interpretations
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.25
- CADD 0.03
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)