V232I (p.Val232Ile) variant of SCN5A (Nav1.5)
V232I (p.Val232Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V232I (p.Val232Ile) variant details
- p.Val232Ile
- rs45471994
- ClinGen CA019745
- ClinVar RCV000010010
- ClinVar RCV000058840
- Pathogenic
- Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.73
- CADD 21.60
- PolyPhen-2 0.54
- SIFT 0.09
- ClinVar: Pathogenic (Brugada syndrome 1)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)
- Cited in: Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals… (PMID 15851227)