V20C (p.Val20Cys) variant of IKZF1 (DNA-binding protein Ikaros)
V20C (p.Val20Cys) in IKZF1 (DNA-binding protein Ikaros) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V20C (p.Val20Cys) variant details
- p.Val20Cys
- rs1795394160
- gnomAD 7-50327647-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available