P19A (p.Pro19Ala) variant of IKZF1 (DNA-binding protein Ikaros)
P19A (p.Pro19Ala) 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 0.23 / 1. The record also includes population frequency data and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- rs931548912
- ClinGen CA367569308
- ClinVar RCV003708383
- TOPMed rs931548912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.04
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available