E60* (p.Glu60Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E60* (p.Glu60Ter) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- rs1410935154
- ClinGen CA380341769
- ClinVar RCV001924140
- ClinVar RCV005868454
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)