K22R (p.Lys22Arg) variant of GJB6 (Gap junction beta-6 protein)
K22R (p.Lys22Arg) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- rs770612890
- gnomAD 13-20223417-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.20
- Most common in the REMAINING population (allele frequency 0.00094)
- Structural context available
- Literature evidence available