L4M (p.Leu4Met) variant of SCN1B (Q07699)
L4M (p.Leu4Met) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 19-35030830-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.34
- ESM-1b 0.80
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 0.49
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available