G33R (p.Gly33Arg) variant of SCN1B (Q07699)
G33R (p.Gly33Arg) 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 0.59 / 1. The record also includes published literature and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs2064221039
- ClinGen CA405327982
- ClinVar RCV001337353
- Ensembl rs2064221039
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.23
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)