D2H (p.Asp2His) variant of IKZF1 (DNA-binding protein Ikaros)
D2H (p.Asp2His) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- gnomAD 7-50319065-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.09
- CADD 24.90
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available