F1473I (p.Phe1473Ile) variant of SCN5A (Nav1.5)
F1473I (p.Phe1473Ile) 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; Long QT syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
F1473I (p.Phe1473Ile) variant details
- p.Phe1473Ile
- rs1057523393
- ClinGen CA352145255
- ClinVar RCV003986005
- Likely pathogenic
- Brugada syndrome 1; Long QT syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.77
- ClinVar: Likely pathogenic (Brugada syndrome 1; Long QT syndrome 3)
- EBI: Likely pathogenic (in LQT3)
- UniProt: Likely pathogenic (in LQT3)
- 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)