P19L (p.Pro19Leu) variant of IKZF1 (DNA-binding protein Ikaros)
P19L (p.Pro19Leu) 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.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs752227855
- ClinGen CA4261196
- cosmic curated COSV58786
- ClinVar RCV003715517
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.04
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -1.02
- CADD 22.60
- PolyPhen-2 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available