K8E (p.Lys8Glu) variant of ASXL3 (Q9C0F0)
K8E (p.Lys8Glu) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD 18-33578649-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available