E48Q (p.Glu48Gln) variant of SCN5A (Nav1.5)
E48Q (p.Glu48Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- cosmic curated COSV10002
- Uncertain significance
- in LQT3
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available