P30H (p.Pro30His) variant of IKZF1 (DNA-binding protein Ikaros)
P30H (p.Pro30His) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- gnomAD rs1424834532
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.26
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available