F9H (p.Phe9His) variant of GJB6 (Gap junction beta-6 protein)
F9H (p.Phe9His) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
F9H (p.Phe9His) variant details
- p.Phe9His
- gnomAD 13-20223454-GAA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 23.60
- Population evidence available
- Literature evidence available