R15G (p.Arg15Gly) variant of SCN10A (Q9Y5Y9)
R15G (p.Arg15Gly) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs754392803
- ClinGen CA2321314
- ClinVar RCV002051246
- ClinVar RCV002331349
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.55
- MetaLR 0.85
- MetaSVM 0.97
- CADD 22.80
- PolyPhen-2 0.60
- SIFT 0.00
- 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 3e-05)
- 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)