M449R (p.Met449Arg) variant of BMPR2 (Q13873)
M449R (p.Met449Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
M449R (p.Met449Arg) variant details
- p.Met449Arg
- rs1085307338
- ClinGen CA350342891
- ClinVar RCV000488557
- ClinVar RCV005090992
- Likely pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.99
- MetaLR 0.39
- MetaSVM -0.15
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Primary pulmonary hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)