V12A (p.Val12Ala) variant of IKZF1 (DNA-binding protein Ikaros)
V12A (p.Val12Ala) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 7-50319096-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available