G21E (p.Gly21Glu) variant of GJB2 (Gap junction beta-2 protein)
G21E (p.Gly21Glu) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- cosmic curated COSV67010
- Ensembl rs1311553564
- Missense
- Structural context available