G45A (p.Gly45Ala) variant of BMPR2 (Q13873)
G45A (p.Gly45Ala) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G45A (p.Gly45Ala) variant details
- p.Gly45Ala
- TOPMed rs1210216471
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available