E26D (p.Glu26Asp) variant of IKZF1 (DNA-binding protein Ikaros)
E26D (p.Glu26Asp) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- TOPMed rs1284126054
- gnomAD rs1284126054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0896
- REVEL 0.10
- CADD 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available