R46H (p.Arg46His) variant of SCN1B (Q07699)
R46H (p.Arg46His) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs1024702691
- ClinGen CA307703362
- ClinVar RCV002046046
- ClinVar RCV006372543
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.85
- MetaSVM 0.66
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)