G1408R (p.Gly1408Arg) variant of SCN5A (Nav1.5)
G1408R (p.Gly1408Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G1408R (p.Gly1408Arg) variant details
- p.Gly1408Arg
- rs137854612
- ClinGen CA017985
- cosmic curated COSV10465
- ClinVar RCV000009995
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT)
- EBI: Pathogenic (in SSS1 and BRGDA1)
- UniProt: Pathogenic (in SSS1 and BRGDA1)
- Population evidence available
- Structural context available
- Cited in: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. (PMID 11748104)
- Cited in: Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). (PMID 14523039)