R367H (p.Arg367His) variant of SCN5A (Nav1.5)
R367H (p.Arg367His) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R367H (p.Arg367His) variant details
- p.Arg367His
- rs28937318
- ClinGen CA014314
- NCI-TCGA Cosmic COSV6112
- cosmic curated COSV61123
- Pathogenic
- not provided; Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Brugada syndrome; Cardiovascular phenotype)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada… (PMID 11823453)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)