K4E (p.Lys4Glu) variant of ASXL3 (Q9C0F0)
K4E (p.Lys4Glu) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- rs1599364162
- gnomAD 18-33578640-CAA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available