G426R (p.Gly426Arg) variant of BMPR2 (Q13873)
G426R (p.Gly426Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
G426R (p.Gly426Arg) variant details
- p.Gly426Arg
- rs869025367
- ClinGen CA351929
- ClinVar RCV000208298
- Ensembl rs869025367
- Uncertain significance
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.67
- MetaLR 0.51
- MetaSVM 0.03
- PolyPhen-2 0.88
- SIFT 0.09
- MutPred 0.49
- ClinVar: Uncertain significance (Primary pulmonary hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)