R52W (p.Arg52Trp) variant of SCN10A (Q9Y5Y9)
R52W (p.Arg52Trp) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs754234000
- ClinGen CA2321297
- ClinVar RCV002403341
- ClinVar RCV003096913
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.46
- MetaLR 0.91
- MetaSVM 1.14
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0016)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)