L13M (p.Leu13Met) variant of SCN1B (Q07699)
L13M (p.Leu13Met) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 19-35030857-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.93
- MetaSVM 0.78
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available