D25V (p.Asp25Val) variant of IKZF1 (DNA-binding protein Ikaros)
D25V (p.Asp25Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
D25V (p.Asp25Val) variant details
- p.Asp25Val
- rs919149752
- ClinGen CA158661181
- ClinVar RCV003715737
- gnomAD rs919149752
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.18
- CADD 24.90
- PolyPhen-2 0.26
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available