V43E (p.Val43Glu) variant of GJB6 (Gap junction beta-6 protein)
V43E (p.Val43Glu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V43E (p.Val43Glu) variant details
- p.Val43Glu
- gnomAD 13-20223353-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available