F305S (p.Phe305Ser) variant of FH (P07954)
F305S (p.Phe305Ser) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
F305S (p.Phe305Ser) variant details
- p.Phe305Ser
- rs1439046582
- ClinGen CA345438419
- ClinVar RCV001018919
- ClinVar RCV002549490
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.96
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)