K8del (p.Lys8del) variant of ASXL3 (Q9C0F0)
K8del (p.Lys8del) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K8del (p.Lys8del) variant details
- rs773896616
- gnomAD 18-33578645-GGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available