C11W (p.Cys11Trp) variant of FLCN (Folliculin)
C11W (p.Cys11Trp) in FLCN (Folliculin) 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; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C11W (p.Cys11Trp) variant details
- p.Cys11Trp
- rs754616167
- ClinGen CA398535465
- ClinVar RCV001297304
- ClinVar RCV001812962
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.79
- CADD 15.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)