E42D (p.Glu42Asp) variant of GJB6 (Gap junction beta-6 protein)
E42D (p.Glu42Asp) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- gnomAD 13-20223355-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- MetaLR 0.84
- MetaSVM 0.36
- CADD 5.50
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available