E47K (p.Glu47Lys) variant of FLCN (Folliculin)
E47K (p.Glu47Lys) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The record also includes structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- cosmic curated COSV99550
- ESP rs369115472
- TOPMed rs369115472
- gnomAD rs369115472
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available