E48K (p.Glu48Lys) variant of SCN5A (Nav1.5)
E48K (p.Glu48Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs199473048
- ClinGen CA014866
- cosmic curated COSV10465
- ClinVar RCV000058423
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM 0.05
- CADD 18.84
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrom)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Brugada Syndrome. (PMID 20301690)