H44Y (p.His44Tyr) variant of SCN8A (Nav1.6)
H44Y (p.His44Tyr) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 12-51662947-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM 0.17
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available