R17A (p.Arg17Ala) variant of ASXL3 (Q9C0F0)
R17A (p.Arg17Ala) 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.
R17A (p.Arg17Ala) variant details
- p.Arg17Ala
- gnomAD 18-33578677-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available