T57Q (p.Thr57Gln) variant of BMPR2 (Q13873)
T57Q (p.Thr57Gln) 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.
T57Q (p.Thr57Gln) variant details
- p.Thr57Gln
- rs1085307170
- ClinGen CA645293992
- ClinVar RCV000488468
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)