D2D (p.Asp2Asp) variant of GJB6 (Gap junction beta-6 protein)
D2D (p.Asp2Asp) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- rs200415730
- gnomAD 13-20223475-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.82
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Literature evidence available