M9T (p.Met9Thr) variant of IKZF1 (DNA-binding protein Ikaros)
M9T (p.Met9Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- rs964046541
- ClinGen CA158660149
- ClinVar RCV002736733
- ClinVar RCV003444113
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available