G27S (p.Gly27Ser) variant of IKZF1 (DNA-binding protein Ikaros)
G27S (p.Gly27Ser) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- rs749271573
- ClinGen CA4261199
- ClinVar RCV003659454
- ExAC rs749271573
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available