E78D (p.Glu78Asp) variant of SCN5A (Nav1.5)
E78D (p.Glu78Asp) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- cosmic curated COSV10440
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- ESM-1b 1.00
- AlphaMissense 0.48
- Structural context available