G98R (p.Gly98Arg) variant of SCN10A (Q9Y5Y9)
G98R (p.Gly98Arg) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G98R (p.Gly98Arg) variant details
- p.Gly98Arg
- rs1322189440
- ClinGen CA352161448
- cosmic curated COSV71860
- ClinVar RCV002440044
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.58
- MetaLR 0.88
- MetaSVM 1.04
- CADD 23.00
- PolyPhen-2 0.66
- SIFT 0.05
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)