C11Y (p.Cys11Tyr) variant of FLCN (Folliculin)
C11Y (p.Cys11Tyr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- rs2544314925
- ClinGen CA398535467
- ClinVar RCV002326214
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)