D22N (p.Asp22Asn) variant of IKZF1 (DNA-binding protein Ikaros)
D22N (p.Asp22Asn) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- rs1245618829
- ClinGen CA367569325
- NCI-TCGA Cosmic COSV1004
- NCI-TCGA Cosmic COSV5878
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available