K48R (p.Lys48Arg) variant of IKZF1 (DNA-binding protein Ikaros)
K48R (p.Lys48Arg) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- gnomAD 7-50327740-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available