Q41* (p.Gln41Ter) variant of GJB6 (Gap junction beta-6 protein)
Q41* (p.Gln41Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- gnomAD 13-20223360-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available