E42E (p.Glu42Glu) variant of GJB2 (Gap junction beta-2 protein)
E42E (p.Glu42Glu) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E42E (p.Glu42Glu) variant details
- p.Glu42Glu
- rs535635403
- gnomAD 13-20189456-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 5.62
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available