A384V (p.Ala384Val) variant of BMPR2 (Q13873)
A384V (p.Ala384Val) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A384V (p.Ala384Val) variant details
- p.Ala384Val
- rs1085307305
- ClinGen CA350341728
- ClinVar RCV000488532
- ClinVar RCV004822072
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)