S18* (p.Ser18Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S18* (p.Ser18Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- rs1320775536
- ClinGen CA380342022
- ClinVar RCV003532650
- ClinVar RCV004011513
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)