R104Q (p.Arg104Gln) variant of SCN5A (Nav1.5)
R104Q (p.Arg104Gln) 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 SCN5A-related disorder; Cardiovascular phenotype; Brugada syndrome (shorter-than. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R104Q (p.Arg104Gln) variant details
- p.Arg104Gln
- rs199473554
- ClinGen CA016849
- ClinVar RCV000058551
- ClinVar RCV000182924
- Pathogenic/Likely pathogenic
- SCN5A-related disorder; Cardiovascular phenotype; Brugada syndrome (shorter-than
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.10
- ClinVar: Pathogenic/Likely pathogenic (SCN5A-related disorder; Cardiovascular phenotype; Brugada syndro)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 16.7
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)