R14H (p.Arg14His) variant of SCN10A (Q9Y5Y9)
R14H (p.Arg14His) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs141207048
- ClinGen CA2321316
- cosmic curated COSV71860
- ClinVar RCV001206781
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- MetaLR 0.82
- MetaSVM 0.63
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)