E30K (p.Glu30Lys) variant of SCN5A (Nav1.5)
E30K (p.Glu30Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- cosmic curated COSV10002
- TOPMed rs974585930
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- ESM-1b 1.00
- AlphaMissense 0.12
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available