Y1795H (p.Tyr1795His) variant of SCN5A (Nav1.5)
Y1795H (p.Tyr1795His) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
Y1795H (p.Tyr1795His) variant details
- p.Tyr1795His
- rs137854615
- ClinGen CA019191
- ClinVar RCV000009999
- ClinVar RCV000058777
- Pathogenic
- Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Brugada syndrome 1)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Structural context available
- Cited in: Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct… (PMID 11410597)
- Cited in: Natural history of Brugada syndrome: insights for risk stratification and management. (PMID 11901046)