R46L (p.Arg46Leu) variant of SCN1B (Q07699)
R46L (p.Arg46Leu) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- rs1024702691
- ClinGen CA405328124
- ClinVar RCV001321412
- TOPMed rs1024702691
- Uncertain significance
- not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.74
- ESM-1b 0.71
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.57
- CADD 32.00
- ClinVar: Uncertain significance (not provided; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)