E137* (p.Glu137Ter) variant of MYH6 (Myosin-6)
E137* (p.Glu137Ter) in MYH6 (Myosin-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E137* (p.Glu137Ter) variant details
- p.Glu137Ter
- ExAC rs752658033
- TOPMed rs752658033
- gnomAD rs752658033
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available