H16H (p.His16His) variant of GJB2 (Gap junction beta-2 protein)
H16H (p.His16His) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H16H (p.His16His) variant details
- p.His16His
- rs1325665848
- gnomAD 13-20189534-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 9.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available