L28F (p.Leu28Phe) variant of GJB2 (Gap junction beta-2 protein)
L28F (p.Leu28Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- cosmic curated COSV10470
- Missense
- Structural context available