T87S (p.Thr87Ser) variant of IL2RA (P01589)
T87S (p.Thr87Ser) in IL2RA (P01589) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data and structural context.
T87S (p.Thr87Ser) variant details
- p.Thr87Ser
- TOPMed rs1232381897
- gnomAD rs1232381897
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0604
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available