S166N (p.Ser166Asn) variant of IL2RA (P01589)
S166N (p.Ser166Asn) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S166N (p.Ser166Asn) variant details
- p.Ser166Asn
- rs796051887
- ClinGen CA203911
- ClinVar RCV000185641
- UniProt VAR 074642
- Pathogenic
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Immunodeficiency due to CD25 deficiency)
- EBI: Pathogenic (in IMD41)
- UniProt: Pathogenic (in IMD41)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. (PMID 23416241)
- Cited in: Follicular bronchiolitis as phenotype associated with CD25 deficiency. (PMID 24116927)