E70* (p.Glu70Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E70* (p.Glu70Ter) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E70* (p.Glu70Ter) variant details
- p.Glu70Ter
- rs11570045
- ClinGen CA221708712
- ClinVar RCV000494482
- Ensembl rs11570045
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available