G400W (p.Gly400Trp) variant of SCN5A (Nav1.5)
G400W (p.Gly400Trp) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G400W (p.Gly400Trp) variant details
- p.Gly400Trp
- rs2062008854
- ClinGen CA352148870
- NCI-TCGA Cosmic COSV6113
- cosmic curated COSV61137
- Likely pathogenic
- Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Brugada syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)