L20R (p.Leu20Arg) variant of ASXL3 (Q9C0F0)
L20R (p.Leu20Arg) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- gnomAD 18-33607594-GCA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available