E46D (p.Glu46Asp) variant of FLCN (Folliculin)
E46D (p.Glu46Asp) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome. The record also includes structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- Ensembl rs1597617874
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available