E386Q (p.Glu386Gln) variant of BMPR2 (Q13873)
E386Q (p.Glu386Gln) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E386Q (p.Glu386Gln) variant details
- p.Glu386Gln
- rs1085307306
- ClinGen CA350341737
- ClinVar RCV000488820
- ClinVar RCV004777686
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)