E5D (p.Glu5Asp) variant of IKZF1 (DNA-binding protein Ikaros)
E5D (p.Glu5Asp) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- ESP rs374267123
- ExAC rs374267123
- TOPMed rs374267123
- gnomAD rs374267123
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.08
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available