K8R (p.Lys8Arg) variant of ASXL3 (Q9C0F0)
K8R (p.Lys8Arg) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- gnomAD 18-33578652-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available