L518P (p.Leu518Pro) variant of FLCN (Folliculin)
L518P (p.Leu518Pro) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
L518P (p.Leu518Pro) variant details
- p.Leu518Pro
- rs2046823775
- ClinGen CA398530507
- ClinVar RCV003326251
- TOPMed rs2046823775
- Pathogenic
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- MutPred 0.72
- ClinVar: Pathogenic (Birt-Hogg-Dube syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)