A26E (p.Ala26Glu) variant of BMPR2 (Q13873)
A26E (p.Ala26Glu) 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.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- rs1085307159
- ClinGen CA350398932
- ClinVar RCV000488646
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)