K462R (p.Lys462Arg) variant of FLCN (Folliculin)
K462R (p.Lys462Arg) 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 record also includes published literature and structural context.
K462R (p.Lys462Arg) variant details
- p.Lys462Arg
- rs1567807684
- ClinGen CA398531253
- ClinVar RCV003057385
- Pathogenic
- Birt-Hogg-Dube syndrome
- Missense
- 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)