S27F (p.Ser27Phe) variant of SETX (Helicase senataxin)
S27F (p.Ser27Phe) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs374733340
- ClinGen CA5298136
- NCI-TCGA Cosmic COSV5638
- ClinVar RCV002998767
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)