C347R (p.Cys347Arg) variant of BMPR2 (Q13873)
C347R (p.Cys347Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C347R (p.Cys347Arg) variant details
- p.Cys347Arg
- rs1085307290
- ClinGen CA350341421
- ClinVar RCV000488554
- ClinVar RCV001003706
- Pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Primary pulmonary hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)