G63fsX1 variant of BMPR2 (Q13873)
For G63fsX1 in BMPR2 (Q13873), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G63fsX1 variant details
- rs863223423
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available