R57S (p.Arg57Ser) variant of IL2RA (P01589)
R57S (p.Arg57Ser) 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 0.44 / 1. The record also includes population frequency data and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- rs1175936796
- ClinGen CA375930497
- ClinVar RCV001874918
- TOPMed rs1175936796
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.38
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available