E161Q (p.Glu161Gln) variant of SCN5A (Nav1.5)
E161Q (p.Glu161Gln) in SCN5A (Nav1.5) is a missense change. The available record places it in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
E161Q (p.Glu161Gln) variant details
- p.Glu161Gln
- rs199473062
- UniProt VAR 074325
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 48.00
- ClinVar: not provided (Brugada syndrome)
- 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)