Q11H (p.Gln11His) variant of IKZF1 (DNA-binding protein Ikaros)
Q11H (p.Gln11His) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs1480100906
- cosmic curated COSV10589
- TOPMed rs1480100906
- gnomAD rs1480100906
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.11
- CADD 18.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available