S60I (p.Ser60Ile) variant of IL2RA (P01589)
S60I (p.Ser60Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- rs1489675522
- ClinGen CA375930428
- ClinVar RCV003514777
- Ensembl rs1489675522
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.25
- CADD 7.75
- PolyPhen-2 0.39
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available