S73* (p.Ser73Ter) variant of BMPR2 (Q13873)
S73* (p.Ser73Ter) in BMPR2 (Q13873) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
S73* (p.Ser73Ter) variant details
- p.Ser73Ter
- rs137852742
- ClinGen CA278072
- ClinVar RCV000009342
- ClinVar RCV001003653
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.13
- MetaLR 0.87
- MetaSVM 0.74
- PolyPhen-2 0.12
- SIFT 0.06
- EVE 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. (PMID 10973254)
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)