H7H (p.His7His) variant of GJB6 (Gap junction beta-6 protein)
H7H (p.His7His) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
H7H (p.His7His) variant details
- p.His7His
- rs1869369099
- gnomAD 13-20223460-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 4.64
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available