E5A (p.Glu5Ala) variant of IKZF1 (DNA-binding protein Ikaros)
E5A (p.Glu5Ala) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E5A (p.Glu5Ala) variant details
- p.Glu5Ala
- gnomAD 7-50319075-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available