V9L (p.Val9Leu) variant of SCN1B (Q07699)
V9L (p.Val9Leu) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- gnomAD 19-35030845-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.14
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available