D485N (p.Asp485Asn) variant of BMPR2 (Q13873)
D485N (p.Asp485Asn) 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.
D485N (p.Asp485Asn) variant details
- p.Asp485Asn
- rs1085307356
- ClinGen CA350344491
- ClinVar RCV000488674
- Ensembl rs1085307356
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)