V24E (p.Val24Glu) variant of SCN1B (Q07699)
V24E (p.Val24Glu) 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 0.97 / 1. The record also includes published literature and structural context.
V24E (p.Val24Glu) variant details
- p.Val24Glu
- rs2514232917
- ClinGen CA405327930
- ClinVar RCV003510744
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)