G34A (p.Gly34Ala) variant of JAK3 (Tyrosine-protein kinase JAK3)
G34A (p.Gly34Ala) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- rs2514582341
- ClinGen CA2739276610
- ClinVar RCV003621968
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available