R18L (p.Arg18Leu) variant of SCN5A (Nav1.5)
R18L (p.Arg18Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of found in a patient with long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- cosmic curated COSV60067
- Uncertain significance
- found in a patient with long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.56
- ESM-1b 0.55
- AlphaMissense 0.18
- MetaLR 0.61
- MetaSVM 0.27
- CADD 15.65
- EBI: uncertain significance (found in a patient with long QT syndrome)
- UniProt: Uncertain significance (found in a patient with long QT syndrome)
- Population evidence available
- Structural context available