K8* (p.Lys8Ter) variant of ASXL3 (Q9C0F0)
K8* (p.Lys8Ter) 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.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- gnomAD 18-33578653-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available