E265G (p.Glu265Gly) variant of BMPR2 (Q13873)
E265G (p.Glu265Gly) 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 0.55 / 1. The record also includes published literature and structural context.
E265G (p.Glu265Gly) variant details
- p.Glu265Gly
- rs1085307259
- ClinGen CA350340527
- ClinVar RCV000488763
- Ensembl rs1085307259
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.51
- MetaLR 0.40
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.83
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)