S84T (p.Ser84Thr) variant of IL2RA (P01589)
S84T (p.Ser84Thr) 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 0.09 / 1. The record also includes population frequency data and structural context.
S84T (p.Ser84Thr) variant details
- p.Ser84Thr
- rs1839474377
- ClinGen CA375929631
- ClinVar RCV001338932
- gnomAD rs1839474377
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0894
- REVEL 0.02
- CADD 7.69
- PolyPhen-2 0.32
- SIFT 0.15
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available