R14L (p.Arg14Leu) variant of SCN5A (Nav1.5)
R14L (p.Arg14Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- cosmic curated COSV10002
- TOPMed rs1223977399
- gnomAD rs1223977399
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.70
- MetaSVM 0.53
- CADD 21.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available