P19T (p.Pro19Thr) variant of IKZF1 (DNA-binding protein Ikaros)
P19T (p.Pro19Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- rs931548912
- ClinGen CA158661180
- ClinVar RCV003046176
- TOPMed rs931548912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.08
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available