D28N (p.Asp28Asn) variant of IKZF1 (DNA-binding protein Ikaros)
D28N (p.Asp28Asn) 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 0.47 / 1. The record also includes population frequency data and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- rs778910457
- ClinGen CA4261201
- NCI-TCGA Cosmic COSV5878
- cosmic curated COSV58784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.21
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available