W44* (p.Trp44Ter) variant of GJB6 (Gap junction beta-6 protein)
W44* (p.Trp44Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
W44* (p.Trp44Ter) variant details
- p.Trp44Ter
- ExAC rs780836560
- gnomAD rs780836560
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)