R5del (p.Arg5del) variant of ASXL3 (Q9C0F0)
R5del (p.Arg5del) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R5del (p.Arg5del) variant details
- gnomAD 18-33578642-AGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available