I52F (p.Ile52Phe) variant of FLCN (Folliculin)
I52F (p.Ile52Phe) in FLCN (Folliculin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- Ensembl rs2047308054
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available