R108Q (p.Arg108Gln) variant of SCN10A (Q9Y5Y9)
R108Q (p.Arg108Gln) 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; not provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- rs141278729
- ClinGen CA2321250
- ClinVar RCV002445588
- ClinVar RCV003099324
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.30
- MetaLR 0.72
- MetaSVM -0.02
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)