H16H (p.His16His) variant of GJB6 (Gap junction beta-6 protein)
H16H (p.His16His) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
H16H (p.His16His) variant details
- p.His16His
- rs1869364806
- gnomAD 13-20223433-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 9.18
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Literature evidence available