H67D (p.His67Asp) variant of GJB6 (Gap junction beta-6 protein)
H67D (p.His67Asp) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H67D (p.His67Asp) variant details
- p.His67Asp
- gnomAD 13-20223282-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- MetaLR 0.96
- MetaSVM 1.06
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available