A391T (p.Ala391Thr) variant of BMPR2 (Q13873)
A391T (p.Ala391Thr) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
A391T (p.Ala391Thr) variant details
- p.Ala391Thr
- rs1085307308
- ClinGen CA350341771
- ClinVar RCV000488515
- ClinVar RCV004777690
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.78
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)