E100G (p.Glu100Gly) variant of IL2RA (P01589)
E100G (p.Glu100Gly) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E100G (p.Glu100Gly) variant details
- p.Glu100Gly
- rs1839442132
- ClinGen CA375928332
- ClinVar RCV003878951
- ClinVar RCV004634406
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.06
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available