C60Y (p.Cys60Tyr) variant of BMPR2 (Q13873)
C60Y (p.Cys60Tyr) 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 0.92 / 1. The record also includes published literature and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- rs1085307172
- ClinGen CA350399334
- ClinVar RCV000488506
- UniProt VAR 013670
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor… (PMID 11015450)
- Cited in: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (PMID 12045205)