V38L (p.Val38Leu) variant of GJB2 (Gap junction beta-2 protein)
V38L (p.Val38Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- gnomAD 13-20189470-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.50
- MetaLR 0.91
- MetaSVM 0.77
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available