R14A (p.Arg14Ala) variant of SCN5A (Nav1.5)
R14A (p.Arg14Ala) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
R14A (p.Arg14Ala) variant details
- p.Arg14Ala
- rs2471907076
- ClinGen CA2580069754
- ClinVar RCV002323326
- ClinVar RCV003658336
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- ESM-1b 0.75
- AlphaMissense 0.39
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available