p.Arg5dup variant of ASXL3 (Q9C0F0)
p.Arg5dup in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg5dup variant details
- gnomAD 18-33578642-A-AGA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available