W9C (p.Trp9Cys) variant of BMPR2 (Q13873)
W9C (p.Trp9Cys) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W9C (p.Trp9Cys) variant details
- p.Trp9Cys
- TOPMed rs1085307149
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available