K2* (p.Lys2Ter) variant of ASXL3 (Q9C0F0)
K2* (p.Lys2Ter) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K2* (p.Lys2Ter) variant details
- p.Lys2Ter
- gnomAD 18-33578635-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available