E53Q (p.Glu53Gln) variant of BMPR1A (P36894)
E53Q (p.Glu53Gln) in BMPR1A (P36894) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- gnomAD rs1554888119
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available