S17R (p.Ser17Arg) variant of IKZF1 (DNA-binding protein Ikaros)
S17R (p.Ser17Arg) 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 and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- Ensembl rs1795393376
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available