E26D (p.Glu26Asp) variant of SCN8A (Nav1.6)
E26D (p.Glu26Asp) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- TOPMed rs1940951822
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.95
- MetaSVM 1.05
- CADD 24.10
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available