E45* (p.Glu45Ter) variant of MYH6 (Myosin-6)
E45* (p.Glu45Ter) in MYH6 (Myosin-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- TOPMed rs1891812356
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available