G69A (p.Gly69Ala) variant of SCN5A (Q14524)
G69A (p.Gly69Ala) in SCN5A (Q14524) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G69A (p.Gly69Ala) variant details
- p.Gly69Ala
- rs2471904945
- ClinGen CA2580069751
- ClinVar RCV003658307
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available