Y88C (p.Tyr88Cys) variant of SETX (Helicase senataxin)
Y88C (p.Tyr88Cys) 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; Amyotrophic lateral sclerosis type 4; Spinocerebellar a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y88C (p.Tyr88Cys) variant details
- p.Tyr88Cys
- rs149276791
- ClinGen CA5298093
- ClinVar RCV000698387
- ClinVar RCV004659180
- Conflicting interpretations
- Inborn genetic diseases; Amyotrophic lateral sclerosis type 4; Spinocerebellar a
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Amyotrophic lateral sclerosis type 4; S)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)