D485G (p.Asp485Gly) variant of BMPR2 (Q13873)
D485G (p.Asp485Gly) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension; Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
D485G (p.Asp485Gly) variant details
- p.Asp485Gly
- rs137852745
- ClinGen CA278079
- ClinVar RCV000009346
- ClinVar RCV001003724
- Pathogenic
- Pulmonary arterial hypertension; Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Pulmonary arterial hypertension; Pulmonary hypertension, primary)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. (PMID 10973254)
- Cited in: BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (PMID 11115378)