G45* (p.Gly45Ter) variant of GJB2 (Gap junction beta-2 protein)
G45* (p.Gly45Ter) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G45* (p.Gly45Ter) variant details
- p.Gly45Ter
- gnomAD 13-20189449-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available