Y41S (p.Tyr41Ser) variant of IL2RA (P01589)
Y41S (p.Tyr41Ser) 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 0.53 / 1. The record also includes published literature and structural context.
Y41S (p.Tyr41Ser) variant details
- p.Tyr41Ser
- rs796051888
- ClinGen CA203914
- ClinVar RCV000185642
- UniProt VAR 074641
- Pathogenic
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.93
- MetaLR 0.42
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Immunodeficiency due to CD25 deficiency)
- EBI: Pathogenic (in IMD41)
- UniProt: Pathogenic (in IMD41)
- Structural context available
- Cited in: Follicular bronchiolitis as phenotype associated with CD25 deficiency. (PMID 24116927)
- Cited in: Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. (PMID 23416241)