T40I (p.Thr40Ile) variant of IKZF1 (DNA-binding protein Ikaros)
T40I (p.Thr40Ile) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD 7-50327716-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available