K22K (p.Lys22Lys) variant of GJB6 (Gap junction beta-6 protein)
K22K (p.Lys22Lys) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K22K (p.Lys22Lys) variant details
- p.Lys22Lys
- gnomAD 13-20223415-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 8.95
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available