E47D (p.Glu47Asp) variant of GJB1 (Gap junction beta-1 protein)
E47D (p.Glu47Asp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available