L6H (p.Leu6His) variant of SCN8A (Nav1.6)
L6H (p.Leu6His) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L6H (p.Leu6His) variant details
- p.Leu6His
- gnomAD 12-51662834-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.89
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.93
- MetaSVM 1.07
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available