V7L (p.Val7Leu) variant of SCN2A (Q99250)
V7L (p.Val7Leu) in SCN2A (Q99250) 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, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- gnomAD 2-165295842-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.83
- MetaSVM 0.47
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available