P18L (p.Pro18Leu) variant of IKZF1 (DNA-binding protein Ikaros)
P18L (p.Pro18Leu) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- cosmic curated COSV10521
- TOPMed rs1397682553
- gnomAD rs1397682553
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.24
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available