D22H (p.Asp22His) variant of IKZF1 (DNA-binding protein Ikaros)
D22H (p.Asp22His) 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 0.44 / 1. The record also includes population frequency data and structural context.
D22H (p.Asp22His) variant details
- p.Asp22His
- gnomAD rs1245618829
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available