R46C (p.Arg46Cys) variant of SCN1B (Q07699)
R46C (p.Arg46Cys) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs371646049
- ClinGen CA9371962
- ClinVar RCV000529816
- ClinVar RCV000732892
- Uncertain significance
- Brugada syndrome 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.69
- CADD 28.70
- ClinVar: Uncertain significance (Brugada syndrome 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)