L177Q (p.Leu177Gln) variant of SCN5A (Q14524)
L177Q (p.Leu177Gln) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The record also includes structural context.
L177Q (p.Leu177Gln) variant details
- p.Leu177Gln
- rs2471838989
- ClinGen CA352153853
- ClinVar RCV004014283
- Uncertain significance
- Cardiac arrhythmia
- Missense
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available