C496R (p.Cys496Arg) variant of BMPR2 (Q13873)
C496R (p.Cys496Arg) 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 0.78 / 1. The record also includes published literature and structural context.
C496R (p.Cys496Arg) variant details
- p.Cys496Arg
- rs1085307361
- ClinGen CA350344628
- ClinVar RCV000488663
- Ensembl rs1085307361
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.79
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)