E23K (p.Glu23Lys) variant of SCN1B (Q07699)
E23K (p.Glu23Lys) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar 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 0.76 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- ExAC rs775096415
- gnomAD rs775096415
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 0.95
- CADD 31.00
- ClinVar: Uncertain significance (Brugada syndrome 5)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available