C117S (p.Cys117Ser) variant of BMPR2 (Q13873)
C117S (p.Cys117Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C117S (p.Cys117Ser) variant details
- p.Cys117Ser
- rs1085307215
- ClinGen CA350399731
- ClinVar RCV000488491
- ClinVar RCV003596000
- Pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Primary pulmonary hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)