E47E (p.Glu47Glu) variant of GJB6 (Gap junction beta-6 protein)
E47E (p.Glu47Glu) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- gnomAD 13-20223340-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.089
- CADD 1.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available