E49A (p.Glu49Ala) variant of SCN8A (Nav1.6)
E49A (p.Glu49Ala) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E49A (p.Glu49Ala) variant details
- p.Glu49Ala
- TOPMed rs1033204733
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.64
- ESM-1b 0.85
- AlphaMissense 0.14
- MetaLR 0.82
- MetaSVM 0.65
- CADD 24.30
- Most common in the 1KG:ASW population (allele frequency 0.023)
- Structural context available