E1548K (p.Glu1548Lys) variant of SCN5A (Nav1.5)
E1548K (p.Glu1548Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E1548K (p.Glu1548Lys) variant details
- p.Glu1548Lys
- rs199473271
- ClinGen CA018462
- ClinVar RCV000058694
- ClinVar RCV006434971
- Likely pathogenic
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Brugada syndrome)
- EBI: Likely pathogenic (in BRGDA1)
- UniProt: Likely pathogenic (in BRGDA1)
- Population evidence available
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)