C60F (p.Cys60Phe) variant of BMPR2 (Q13873)
C60F (p.Cys60Phe) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C60F (p.Cys60Phe) variant details
- p.Cys60Phe
- rs1085307172
- ClinGen CA350399336
- ClinVar RCV001035315
- Ensembl rs1085307172
- Uncertain significance
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)