I49* (p.Ile49Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I49* (p.Ile49Ter) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
I49* (p.Ile49Ter) variant details
- p.Ile49Ter
- Ensembl rs869025462
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available