Y79* (p.Tyr79Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Y79* (p.Tyr79Ter) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y79* (p.Tyr79Ter) variant details
- p.Tyr79Ter
- rs730880698
- ClinGen CA012155
- ClinVar RCV000158452
- ClinVar RCV000219427
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 28.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)