H67H (p.His67His) variant of GJB6 (Gap junction beta-6 protein)
H67H (p.His67His) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H67H (p.His67His) variant details
- p.His67His
- gnomAD 13-20223280-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 8.96
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available