K4* (p.Lys4Ter) variant of ASXL3 (Q9C0F0)
K4* (p.Lys4Ter) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K4* (p.Lys4Ter) variant details
- p.Lys4Ter
- gnomAD 18-33578641-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 36.00
- Most common in the East Asian population (allele frequency 4.7e-05)
- Structural context available
- Literature evidence available