C347Y (p.Cys347Tyr) variant of BMPR2 (Q13873)
C347Y (p.Cys347Tyr) 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 0.93 / 1. The record also includes published literature and structural context.
C347Y (p.Cys347Tyr) variant details
- p.Cys347Tyr
- rs137852744
- ClinGen CA278077
- ClinVar RCV000009345
- ClinVar RCV001823866
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- 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: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (PMID 12045205)