E35K (p.Glu35Lys) variant of IKZF1 (DNA-binding protein Ikaros)
E35K (p.Glu35Lys) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- cosmic curated COSV58785
- TOPMed rs1432663785
- gnomAD rs1432663785
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available