K7* (p.Lys7Ter) variant of ASXL1 (Polycomb group protein ASXL1)
K7* (p.Lys7Ter) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K7* (p.Lys7Ter) variant details
- p.Lys7Ter
- gnomAD 20-32358794-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available