V9D (p.Val9Asp) variant of SCN1B (Q07699)
V9D (p.Val9Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V9D (p.Val9Asp) variant details
- p.Val9Asp
- gnomAD 19-35030846-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.91
- MetaSVM 0.85
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available