E47E (p.Glu47Glu) variant of GJB1 (Gap junction beta-1 protein)
E47E (p.Glu47Glu) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- gnomAD X-71223848-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 8.91
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available