H331R (p.His331Arg) variant of BMPR2 (Q13873)
H331R (p.His331Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension; 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.
H331R (p.His331Arg) variant details
- p.His331Arg
- rs1085307285
- ClinGen CA350341322
- ClinVar RCV000488462
- ClinVar RCV001003703
- Pathogenic
- Pulmonary arterial hypertension; Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Pulmonary arterial hypertension; Pulmonary hypertension, primary)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)