G63Y (p.Gly63Tyr) variant of BMPR2 (Q13873)
G63Y (p.Gly63Tyr) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G63Y (p.Gly63Tyr) variant details
- p.Gly63Tyr
- rs1553503200
- ClinGen CA645293993
- ClinVar RCV000488633
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)