E48Q (p.Glu48Gln) variant of FLCN (Folliculin)
E48Q (p.Glu48Gln) in FLCN (Folliculin) is a missense change. The record also includes structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- Ensembl rs2145045246
- Missense
- Structural context available