S863N (p.Ser863Asn) variant of BMPR2 (Q13873)
S863N (p.Ser863Asn) 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 0.77 / 1. The record also includes published literature and structural context.
S863N (p.Ser863Asn) variant details
- p.Ser863Asn
- rs1006246556
- ClinGen CA64043930
- ClinVar RCV000488612
- UniProt VAR 073042
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. (PMID 25187962)
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)