V53V (p.Val53Val) variant of IKZF1 (DNA-binding protein Ikaros)
V53V (p.Val53Val) in IKZF1 (DNA-binding protein Ikaros) is a protein-truncating 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.
V53V (p.Val53Val) variant details
- p.Val53Val
- gnomAD 7-50327756-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 9.59
- Population evidence available
- Structural context available
- Literature evidence available