K7R (p.Lys7Arg) variant of ASXL3 (Q9C0F0)
K7R (p.Lys7Arg) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 18-33578649-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available