E19K (p.Glu19Lys) variant of SCN5A (Nav1.5)
E19K (p.Glu19Lys) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- cosmic curated COSV60067
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- ESM-1b 1.00
- AlphaMissense 0.28
- Structural context available