E48Q (p.Glu48Gln) variant of SCN1B (Q07699)
E48Q (p.Glu48Gln) 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 0.18 / 1. The record also includes structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52894
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- ESM-1b 0.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (Brugada syndrome 5)
- UniProt: Uncertain significance
- Structural context available