P18H (p.Pro18His) variant of IKZF1 (DNA-binding protein Ikaros)
P18H (p.Pro18His) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P18H (p.Pro18His) variant details
- p.Pro18His
- rs1397682553
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10049
- TOPMed rs1397682553
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- CADD 24.50
- PolyPhen-2 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available