R17P (p.Arg17Pro) variant of ASXL3 (Q9C0F0)
R17P (p.Arg17Pro) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- gnomAD 18-33578677-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available