W44C (p.Trp44Cys) variant of GJB6 (Gap junction beta-6 protein)
W44C (p.Trp44Cys) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
W44C (p.Trp44Cys) variant details
- p.Trp44Cys
- ExAC rs780836560
- gnomAD rs780836560
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)