R103W (p.Arg103Trp) variant of SCN10A (Q9Y5Y9)
R103W (p.Arg103Trp) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R103W (p.Arg103Trp) variant details
- p.Arg103Trp
- rs750073618
- ClinGen CA2321253
- NCI-TCGA Cosmic COSV1014
- NCI-TCGA Cosmic COSV7186
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.75
- MetaLR 0.95
- MetaSVM 1.13
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)