E98* (p.Glu98Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E98* (p.Glu98Ter) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E98* (p.Glu98Ter) variant details
- p.Glu98Ter
- rs868819340
- ClinGen CA221708458
- ClinVar RCV000628982
- Ensembl rs868819340
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- CADD 45.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available