G1743E (p.Gly1743Glu) variant of SCN5A (Nav1.5)
G1743E (p.Gly1743Glu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1743E (p.Gly1743Glu) variant details
- p.Gly1743Glu
- rs199473629
- ClinGen CA019022
- ClinVar RCV000058754
- ClinVar RCV001699030
- Pathogenic
- not provided; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Brugada syndrome 1)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Structural context available
- Cited in: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients… (PMID 12106943)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)