E47K (p.Glu47Lys) variant of GJB1 (Gap junction beta-1 protein)
E47K (p.Glu47Lys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs2092542839
- ClinGen CA413501088
- ClinVar RCV001172019
- Ensembl rs2092542839
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available