E46K (p.Glu46Lys) variant of FLCN (Folliculin)
E46K (p.Glu46Lys) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99550
- TOPMed rs2047308689
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available