S1710L (p.Ser1710Leu) variant of SCN5A (Nav1.5)
S1710L (p.Ser1710Leu) 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 Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome 1. 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.
S1710L (p.Ser1710Leu) variant details
- p.Ser1710Leu
- rs137854604
- ClinGen CA018910
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome 1)
- EBI: Pathogenic (in VF1)
- UniProt: Pathogenic (in VF1)
- Population evidence available
- Structural context available
- Cited in: A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada… (PMID 10940383)
- Cited in: Brugada Syndrome. (PMID 20301690)