V8M (p.Val8Met) variant of SCN1B (Q07699)
V8M (p.Val8Met) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD 19-35030842-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.22
- ESM-1b 0.27
- AlphaMissense 0.28
- MetaLR 0.79
- MetaSVM 0.29
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available