D487E (p.Asp487Glu) variant of BMPR2 (Q13873)
D487E (p.Asp487Glu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
D487E (p.Asp487Glu) variant details
- p.Asp487Glu
- rs2106042103
- ClinGen CA350344529
- ClinVar RCV001980964
- Ensembl rs2106042103
- Likely pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.66
- ClinVar: Likely pathogenic (Primary pulmonary hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available