P39R (p.Pro39Arg) variant of BMPR2 (Q13873)
P39R (p.Pro39Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes published literature and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- rs1085307165
- ClinGen CA645293990
- ClinVar RCV000488570
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)