E48Q (p.Glu48Gln) variant of SCN5A (Q14524)
E48Q (p.Glu48Gln) in SCN5A (Q14524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT3. The record also includes structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- cosmic curated COSV10002
- Uncertain significance
- in LQT3
- Missense
- EBI: uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available