S186N (p.Ser186Asn) variant of FH (P07954)
S186N (p.Ser186Asn) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S186N (p.Ser186Asn) variant details
- p.Ser186Asn
- rs587782618
- ClinGen CA169030
- ClinVar RCV000131997
- ClinVar RCV001029752
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.83
- CADD 29.10
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)