S17G (p.Ser17Gly) variant of IKZF1 (DNA-binding protein Ikaros)
S17G (p.Ser17Gly) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- ExAC rs751054964
- gnomAD rs751054964
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available