C60R (p.Cys60Arg) variant of BMPR2 (Q13873)
C60R (p.Cys60Arg) 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 0.96 / 1. The record also includes published literature and structural context.
C60R (p.Cys60Arg) variant details
- p.Cys60Arg
- rs1085307171
- ClinGen CA350399332
- ClinVar RCV000488650
- Ensembl rs1085307171
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.87
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)