C496Y (p.Cys496Tyr) variant of BMPR2 (Q13873)
C496Y (p.Cys496Tyr) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary pulmonary hypertension; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C496Y (p.Cys496Tyr) variant details
- p.Cys496Tyr
- rs1085307362
- ClinGen CA350344634
- ClinVar RCV000488722
- ClinVar RCV001810976
- Pathogenic/Likely pathogenic
- Primary pulmonary hypertension; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Primary pulmonary hypertension; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)