E49D (p.Glu49Asp) variant of SCN8A (Q9UQD0)
E49D (p.Glu49Asp) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- TOPMed rs1940954332
- gnomAD rs1940954332
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.59
- MetaSVM -0.32
- SIFT 0.75
- Structural context available