S46G (p.Ser46Gly) variant of IKZF1 (DNA-binding protein Ikaros)
S46G (p.Ser46Gly) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- gnomAD rs1318919672
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available