R104W (p.Arg104Trp) variant of SCN5A (Q14524)
R104W (p.Arg104Trp) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Brugada syndrome (shorter-than-normal QT interval); no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs199473055
- UniProt VAR 074319
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Brugada syndrome (shorter-than-normal QT interval); no
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Brugada syndrome (shorter-than-normal)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- 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: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)