E30K (p.Glu30Lys) variant of SCN5A (Q14524)
E30K (p.Glu30Lys) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The record also includes structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- cosmic curated COSV10002
- TOPMed rs974585930
- Uncertain significance
- Cardiac arrhythmia
- Missense
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available