D26H (p.Asp26His) variant of IL2RA (P01589)
D26H (p.Asp26His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
D26H (p.Asp26His) variant details
- p.Asp26His
- rs55868253
- ClinGen CA5397550
- cosmic curated COSV10507
- ClinVar RCV000641698
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0493
- REVEL 0.04
- CADD 1.20
- PolyPhen-2 0.13
- SIFT 0.32
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available