P28L (p.Pro28Leu) variant of IL2RA (P01589)
P28L (p.Pro28Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1054397968
- ClinGen CA202296684
- ClinVar RCV003831015
- TOPMed rs1054397968
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.46
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available