M406R (p.Met406Arg) variant of BMPR2 (Q13873)
M406R (p.Met406Arg) 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 0.80 / 1. The record also includes structural context.
M406R (p.Met406Arg) variant details
- p.Met406Arg
- rs1247070046
- ClinGen CA350341879
- ClinVar RCV001003711
- gnomAD rs1247070046
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.66
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 0.59
- SIFT 0.01
- EVE 0.65
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available