H73H (p.His73His) variant of GJB6 (Gap junction beta-6 protein)
H73H (p.His73His) in GJB6 (Gap junction beta-6 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.
H73H (p.His73His) variant details
- p.His73His
- gnomAD 13-20223262-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 10.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available