G1743R (p.Gly1743Arg) variant of SCN5A (Nav1.5)
G1743R (p.Gly1743Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Sick sinus syndrome 1; Atrial fibrillation, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1743R (p.Gly1743Arg) variant details
- p.Gly1743Arg
- rs199473305
- ClinGen CA019015
- cosmic curated COSV61142
- ClinVar RCV000058753
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Sick sinus syndrome 1; Atrial fibrillation, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Sick sinus syndrome 1; Atrial fibrilla)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Population evidence available
- Structural context available
- Cited in: A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. (PMID 15023552)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)