Y465C (p.Tyr465Cys) variant of FH (P07954)
Y465C (p.Tyr465Cys) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y465C (p.Tyr465Cys) variant details
- p.Tyr465Cys
- rs863224010
- ClinGen CA321656
- ClinVar RCV000197211
- ClinVar RCV000445635
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.95
- CADD 28.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)