D50G (p.Asp50Gly) variant of SCN8A (Nav1.6)
D50G (p.Asp50Gly) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD 12-51662966-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.81
- MetaSVM 0.58
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available