S64R (p.Ser64Arg) variant of BMPR2 (Q13873)
S64R (p.Ser64Arg) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PPH1. The record also includes published literature and structural context.
S64R (p.Ser64Arg) variant details
- p.Ser64Arg
- UniProt VAR 079588
- Uncertain significance
- in PPH1
- Missense
- EBI: Variant of uncertain significance (in PPH1)
- UniProt: Uncertain significance (in PPH1)
- Structural context available
- Cited in: Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. (PMID 28507310)
- Cited in: Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein… (PMID 10903931)