G12D (p.Gly12Asp) variant of GJB6 (Gap junction beta-6 protein)
G12D (p.Gly12Asp) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- ExAC rs779708708
- TOPMed rs779708708
- gnomAD rs779708708
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)