P19R (p.Pro19Arg) variant of IKZF1 (DNA-binding protein Ikaros)
P19R (p.Pro19Arg) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- gnomAD 7-50327653-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available