I89M (p.Ile89Met) variant of SETX (Helicase senataxin)
I89M (p.Ile89Met) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I89M (p.Ile89Met) variant details
- p.Ile89Met
- rs767232097
- ClinGen CA5298091
- ClinVar RCV001219943
- ClinVar RCV002562491
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.50
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)