E23D (p.Glu23Asp) variant of SCN1B (Q07699)
E23D (p.Glu23Asp) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs762553865
- ClinGen CA9371950
- ClinVar RCV000622208
- ClinVar RCV003621563
- Uncertain significance
- not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.91
- MetaSVM 0.77
- CADD 23.40
- ClinVar: Uncertain significance (not provided; Brugada syndrome 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)