C117Y (p.Cys117Tyr) variant of BMPR2 (Q13873)
C117Y (p.Cys117Tyr) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C117Y (p.Cys117Tyr) variant details
- p.Cys117Tyr
- rs1085307215
- ClinGen CA350399730
- ClinVar RCV000488729
- ClinVar RCV000507538
- Pathogenic
- not specified; Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not specified; Primary pulmonary hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Population evidence available
- 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)