C84F (p.Cys84Phe) variant of BMPR2 (Q13873)
C84F (p.Cys84Phe) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C84F (p.Cys84Phe) variant details
- p.Cys84Phe
- rs1085307197
- ClinGen CA350399512
- ClinVar RCV000488611
- UniProt VAR 079590
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial… (PMID 24936649)
- Cited in: Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. (PMID 28507310)