D46D (p.Asp46Asp) variant of GJB6 (Gap junction beta-6 protein)
D46D (p.Asp46Asp) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- rs748793847
- gnomAD 13-20223343-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0811
- CADD 0.12
- Population evidence available
- Structural context available
- Literature evidence available