G83R (p.Gly83Arg) variant of BMPR2 (Q13873)
G83R (p.Gly83Arg) 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 0.99 / 1. The record also includes published literature and structural context.
G83R (p.Gly83Arg) variant details
- p.Gly83Arg
- rs1085307187
- ClinGen CA350399488
- ClinVar RCV000488505
- Ensembl rs1085307187
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)