L4P (p.Leu4Pro) variant of SCN1B (Q07699)
L4P (p.Leu4Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 19-35030831-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.75
- ESM-1b 0.94
- AlphaMissense 0.10
- MetaLR 0.90
- MetaSVM 0.79
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available