C84Y (p.Cys84Tyr) variant of BMPR2 (Q13873)
C84Y (p.Cys84Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C84Y (p.Cys84Tyr) variant details
- p.Cys84Tyr
- rs1085307197
- ClinGen CA350399510
- ClinVar RCV001003656
- ClinVar RCV001823932
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available