E78K (p.Glu78Lys) variant of SCN5A (Nav1.5)
E78K (p.Glu78Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- ESM-1b 1.00
- AlphaMissense 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available