Q110E (p.Gln110Glu) variant of IL2RA (P01589)
Q110E (p.Gln110Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
Q110E (p.Gln110Glu) variant details
- p.Gln110Glu
- rs1839441418
- ClinGen CA375928094
- ClinVar RCV001106478
- Ensembl rs1839441418
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.95
- PolyPhen-2 0.79
- SIFT 0.01
- EVE 0.52
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available