R104Q (p.Arg104Gln) variant of SCN5A (Q14524)
R104Q (p.Arg104Gln) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Brugada syndrome (shorter-than-normal QT interval); Cardiova. 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.
R104Q (p.Arg104Gln) variant details
- p.Arg104Gln
- rs199473554
- ClinGen CA016849
- ClinVar RCV000058551
- ClinVar RCV000182924
- Conflicting interpretations
- Cardiac arrhythmia; Brugada syndrome (shorter-than-normal QT interval); Cardiova
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.97
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Brugada syndrome (shorter-than-normal QT int)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- 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)