H67Q (p.His67Gln) variant of GJB6 (Gap junction beta-6 protein)
H67Q (p.His67Gln) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H67Q (p.His67Gln) variant details
- p.His67Gln
- 1000Genomes rs554688212
- ExAC rs554688212
- TOPMed rs554688212
- gnomAD rs554688212
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 20.90
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available