G43V (p.Gly43Val) variant of IKZF1 (DNA-binding protein Ikaros)
G43V (p.Gly43Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- rs1378576386
- ClinGen CA367569466
- ClinVar RCV002811484
- TOPMed rs1378576386
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.08
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available