A3T (p.Ala3Thr) variant of IKZF1 (DNA-binding protein Ikaros)
A3T (p.Ala3Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1584438980
- ClinGen CA367568835
- ClinVar RCV000788725
- Ensembl rs1584438980
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.83
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available