R88Q (p.Arg88Gln) variant of IL2RA (P01589)
R88Q (p.Arg88Gln) 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 specified. 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.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs139340259
- ClinGen CA5397505
- cosmic curated COSV10437
- ClinVar RCV000794961
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.055
- REVEL 0.02
- CADD 5.20
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available