S35W (p.Ser35Trp) variant of FH (P07954)
S35W (p.Ser35Trp) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S35W (p.Ser35Trp) variant details
- p.Ser35Trp
- rs942065027
- ClinGen CA40337936
- ClinVar RCV001017127
- ClinVar RCV001574592
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.35
- CADD 16.40
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)