G20S (p.Gly20Ser) variant of SCN1B (Q07699)
G20S (p.Gly20Ser) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1474025001
- ClinGen CA405327902
- ClinVar RCV002292993
- ClinVar RCV003621622
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.89
- MetaSVM 0.76
- CADD 27.60
- 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 1.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)