E99D (p.Glu99Asp) variant of IL2RA (P01589)
E99D (p.Glu99Asp) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
E99D (p.Glu99Asp) variant details
- p.Glu99Asp
- rs201105599
- ClinGen CA5397496
- ClinVar RCV000700724
- ClinVar RCV004026525
- Uncertain significance
- not specified; not provided; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.41
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; not provided; Immunodeficiency due to CD25 defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available