R103Q (p.Arg103Gln) variant of SCN10A (Q9Y5Y9)
R103Q (p.Arg103Gln) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; not provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs199973777
- ClinGen CA2321252
- ClinVar RCV000638754
- ClinVar RCV002325237
- Likely benign
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.79
- MetaLR 0.96
- MetaSVM 1.11
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)