A490V (p.Ala490Val) variant of BMPR2 (Q13873)
A490V (p.Ala490Val) 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 0.61 / 1. The record also includes published literature and structural context.
A490V (p.Ala490Val) variant details
- p.Ala490Val
- rs886039222
- ClinGen CA10587995
- ClinVar RCV000246386
- ClinVar RCV006462269
- Pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.92
- ClinVar: Pathogenic (Primary pulmonary hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)