S47G (p.Ser47Gly) variant of SCN1B (Q07699)
S47G (p.Ser47Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- rs1460827220
- ClinGen CA405328127
- ClinVar RCV002994172
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.68
- MetaSVM 0.12
- CADD 22.60
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)