G19R (p.Gly19Arg) variant of SCN1B (Q07699)
G19R (p.Gly19Arg) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs771386831
- ClinGen CA9371945
- cosmic curated COSV52894
- ClinVar RCV003480310
- Uncertain significance
- not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.92
- MetaSVM 0.92
- CADD 27.30
- ClinVar: Uncertain significance (not provided; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)