C11* (p.Cys11Ter) variant of FLCN (Folliculin)
C11* (p.Cys11Ter) in FLCN (Folliculin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C11* (p.Cys11Ter) variant details
- p.Cys11Ter
- rs754616167
- ClinGen CA398535464
- ClinVar RCV000492609
- ClinVar RCV000578955
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 25.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)