R814Q (p.Arg814Gln) variant of SCN5A (Nav1.5)
R814Q (p.Arg814Gln) 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; Cardiac arrhythmia; Dilated cardiomyopathy 1E. 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.
R814Q (p.Arg814Gln) variant details
- p.Arg814Gln
- rs199473584
- ClinGen CA016182
- ClinVar RCV000058501
- ClinVar RCV000497380
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Dilated cardiomyopathy 1E
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Dilated cardiomyop)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: SCN5A channelopathies--an update on mutations and mechanisms. (PMID 19027780)
- Cited in: Brugada Syndrome. (PMID 20301690)