P32L (p.Pro32Leu) variant of IKZF1 (DNA-binding protein Ikaros)
P32L (p.Pro32Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs775793261
- ClinGen CA4261204
- NCI-TCGA Cosmic COSV5878
- cosmic curated COSV58789
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.19
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available