L177Q (p.Leu177Gln) variant of SCN5A (Nav1.5)
L177Q (p.Leu177Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
L177Q (p.Leu177Gln) variant details
- p.Leu177Gln
- rs2471838989
- ClinGen CA352153853
- ClinVar RCV004014283
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- ESM-1b 1.00
- AlphaMissense 0.77
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available