E48K (p.Glu48Lys) variant of SCN1B (Q07699)
E48K (p.Glu48Lys) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1293015271
- ClinGen CA405328140
- cosmic curated COSV52894
- ClinVar RCV003081729
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.10
- MetaSVM -1.08
- CADD 32.00
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)