W42* (p.Trp42Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
W42* (p.Trp42Ter) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
W42* (p.Trp42Ter) variant details
- p.Trp42Ter
- Ensembl rs1384247644
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 36.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available