R18L (p.Arg18Leu) variant of SCN5A (Q14524)
R18L (p.Arg18Leu) in SCN5A (Q14524) 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 0.48 / 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 0.478
- REVEL 0.56
- CADD 17.30
- PolyPhen-2 0.41
- SIFT 0.15
- 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