R104W (p.Arg104Trp) variant of SCN5A (Nav1.5)
R104W (p.Arg104Trp) 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 not provided; Sick sinus syndrome 1; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs199473055
- UniProt VAR 074319
- Pathogenic/Likely pathogenic
- not provided; Sick sinus syndrome 1; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- ESM-1b 0.87
- AlphaMissense 0.88
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.50
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Sick sinus syndrome 1; Brugada syndrome 1)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 16.5
- 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)