E49E (p.Glu49Glu) variant of GJB6 (Gap junction beta-6 protein)
E49E (p.Glu49Glu) 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 and published literature.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs374808795
- gnomAD 13-20223334-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0854
- CADD 0.68
- Population evidence available
- Literature evidence available