T68I (p.Thr68Ile) variant of IL2RA (P01589)
T68I (p.Thr68Ile) 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.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- rs1839475742
- ClinGen CA375930175
- ClinVar RCV003047703
- Ensembl rs1839475742
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.21
- MetaLR 0.18
- MetaSVM -0.94
- PolyPhen-2 0.17
- SIFT 0.51
- EVE 0.21
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available