E15* (p.Glu15Ter) variant of ASXL1 (Polycomb group protein ASXL1)
E15* (p.Glu15Ter) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- gnomAD 20-32358818-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available