L63P (p.Leu63Pro) variant of IL2RA (P01589)
L63P (p.Leu63Pro) 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 0.21 / 1. The record also includes population frequency data and structural context.
L63P (p.Leu63Pro) variant details
- p.Leu63Pro
- rs1839476159
- ClinGen CA375930338
- ClinVar RCV002790790
- TOPMed rs1839476159
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.29
- CADD 7.03
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available