M186V (p.Met186Val) variant of BMPR2 (Q13873)
M186V (p.Met186Val) 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 associated with congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
M186V (p.Met186Val) variant details
- p.Met186Val
- rs1085307244
- ClinGen CA350338798
- ClinVar RCV000488480
- Ensembl rs1085307244
- Pathogenic
- Pulmonary arterial hypertension associated with congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.11
- MetaLR 0.57
- MetaSVM -0.19
- PolyPhen-2 0.00
- SIFT 0.36
- EVE 0.18
- ClinVar: Pathogenic (Pulmonary arterial hypertension associated with congenital heart)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available