H44R (p.His44Arg) variant of SCN8A (Q9UQD0)
H44R (p.His44Arg) in SCN8A (Q9UQD0) 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.
H44R (p.His44Arg) variant details
- p.His44Arg
- gnomAD 12-51662948-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.65
- MetaSVM 0.17
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available