G2V (p.Gly2Val) variant of SCN1B (Q07699)
G2V (p.Gly2Val) 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; Cardiovascular phenotype; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs1402221712
- ClinGen CA405327792
- ClinVar RCV003511254
- ClinVar RCV004985412
- Uncertain significance
- not provided; Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.91
- MetaSVM 0.81
- CADD 26.30
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)