D46D (p.Asp46Asp) variant of GJB1 (Gap junction beta-1 protein)
D46D (p.Asp46Asp) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- rs1419095893
- gnomAD X-71223845-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available