D4V (p.Asp4Val) variant of IKZF1 (DNA-binding protein Ikaros)
D4V (p.Asp4Val) in IKZF1 (DNA-binding protein Ikaros) is a missense 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.
D4V (p.Asp4Val) variant details
- p.Asp4Val
- gnomAD 7-50319072-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.34
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available