E5E (p.Glu5Glu) variant of IKZF1 (DNA-binding protein Ikaros)
E5E (p.Glu5Glu) in IKZF1 (DNA-binding protein Ikaros) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs374267123
- gnomAD 7-50319076-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 7.50
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Literature evidence available