D25N (p.Asp25Asn) variant of IL2RA (P01589)
D25N (p.Asp25Asn) 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 0.11 / 1. The record also includes population frequency data and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- rs201995749
- ClinGen CA5397552
- ClinVar RCV003630157
- 1000Genomes rs201995749
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.09
- CADD 8.54
- PolyPhen-2 0.70
- SIFT 0.30
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available