R3M (p.Arg3Met) variant of SCN1B (Q07699)
R3M (p.Arg3Met) 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; not provided; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R3M (p.Arg3Met) variant details
- p.Arg3Met
- rs2151745336
- ClinGen CA405327798
- ClinVar RCV001756340
- ClinVar RCV002370274
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.77
- MetaSVM 0.29
- CADD 22.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)