Q45P (p.Gln45Pro) variant of IKZF1 (DNA-binding protein Ikaros)
Q45P (p.Gln45Pro) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- gnomAD 7-50327731-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.41
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available