R14C (p.Arg14Cys) variant of SCN10A (Q9Y5Y9)
R14C (p.Arg14Cys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs750771811
- ClinGen CA2321317
- cosmic curated COSV10826
- ClinVar RCV000690545
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.81
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 0.92
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00021)
- 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)