R14A (p.Arg14Ala) variant of SCN5A (Q14524)
R14A (p.Arg14Ala) in SCN5A (Q14524) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R14A (p.Arg14Ala) variant details
- p.Arg14Ala
- rs2471907076
- ClinGen CA2580069754
- ClinVar RCV002323326
- ClinVar RCV003658336
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available