A38V (p.Ala38Val) variant of IL2RA (P01589)
A38V (p.Ala38Val) 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 record also includes structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs2539649948
- ClinGen CA375931050
- ClinVar RCV003630337
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available