G47D (p.Gly47Asp) variant of BMPR2 (Q13873)
G47D (p.Gly47Asp) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs1085307168
- ClinGen CA350399236
- ClinVar RCV000488593
- ClinVar RCV005051783
- Uncertain significance
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.12
- MetaLR 0.87
- MetaSVM 0.75
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.21
- ClinVar: Uncertain significance (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available