V52A (p.Val52Ala) variant of IKZF1 (DNA-binding protein Ikaros)
V52A (p.Val52Ala) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- ExAC rs752423552
- gnomAD rs752423552
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.01
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available