S35L (p.Ser35Leu) variant of FH (P07954)
S35L (p.Ser35Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- rs942065027
- ClinGen CA345442696
- ClinVar RCV001760354
- ClinVar RCV002402840
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.25
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)