H16H (p.His16His) variant of GJB1 (Gap junction beta-1 protein)
H16H (p.His16His) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H16H (p.His16His) variant details
- p.His16His
- rs1270518681
- gnomAD X-71223755-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available