Q11R (p.Gln11Arg) variant of IKZF1 (DNA-binding protein Ikaros)
Q11R (p.Gln11Arg) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- gnomAD 7-50319093-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available