E47* (p.Glu47Ter) variant of GJB2 (Gap junction beta-2 protein)
E47* (p.Glu47Ter) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- rs104894398
- ClinGen CA172213
- ClinVar RCV000018529
- ClinVar RCV000080366
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Connexin 26 gene linked to a dominant deafness. (PMID 9620796)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)