E5G (p.Glu5Gly) variant of IKZF1 (DNA-binding protein Ikaros)
E5G (p.Glu5Gly) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- TOPMed rs1335984507
- gnomAD rs1335984507
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.09
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available