K22E (p.Lys22Glu) variant of GJB6 (Gap junction beta-6 protein)
K22E (p.Lys22Glu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K22E (p.Lys22Glu) variant details
- p.Lys22Glu
- 1000Genomes rs199552278
- ExAC rs199552278
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 27.70
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available