P18T (p.Pro18Thr) variant of IKZF1 (DNA-binding protein Ikaros)
P18T (p.Pro18Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- rs754640737
- ClinGen CA4261194
- ClinVar RCV002750257
- ExAC rs754640737
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- Structural context available