I52F (p.Ile52Phe) variant of GJB1 (Gap junction beta-1 protein)
I52F (p.Ile52Phe) in GJB1 (Gap junction beta-1 protein) is a missense change. The record also includes structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- Ensembl rs945361547
- Missense
- Structural context available