E61* (p.Glu61Ter) variant of MYLK (Q15746)
E61* (p.Glu61Ter) in MYLK (Q15746) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E61* (p.Glu61Ter) variant details
- p.Glu61Ter
- gnomAD 3-123617782-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 8.39
- Population evidence available
- Structural context available
- Literature evidence available