E14R (p.Glu14Arg) variant of ASXL3 (Q9C0F0)
E14R (p.Glu14Arg) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E14R (p.Glu14Arg) variant details
- p.Glu14Arg
- gnomAD 18-33578668-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available