Q7K (p.Gln7Lys) variant of IKZF1 (DNA-binding protein Ikaros)
Q7K (p.Gln7Lys) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD rs1325476367
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available