G69A (p.Gly69Ala) variant of SCN5A (Nav1.5)
G69A (p.Gly69Ala) 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 0.68 / 1. The record also includes structural context.
G69A (p.Gly69Ala) variant details
- p.Gly69Ala
- rs2471904945
- ClinGen CA2580069751
- ClinVar RCV003658307
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- ESM-1b 1.00
- AlphaMissense 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available