D50D (p.Asp50Asp) variant of GJB6 (Gap junction beta-6 protein)
D50D (p.Asp50Asp) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D50D (p.Asp50Asp) variant details
- p.Asp50Asp
- gnomAD 13-20223331-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 6.02
- Population evidence available
- Structural context available
- Literature evidence available