C19F (p.Cys19Phe) variant of IL2RA (P01589)
C19F (p.Cys19Phe) in IL2RA (P01589) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency. The record also includes structural context.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- ExAC rs764712311
- gnomAD rs764712311
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- UniProt: Uncertain significance
- Structural context available