R88W (p.Arg88Trp) variant of IL2RA (P01589)
R88W (p.Arg88Trp) 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; Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R88W (p.Arg88Trp) variant details
- p.Arg88Trp
- rs919412627
- ClinGen CA202295672
- ClinVar RCV001365737
- ClinVar RCV006424784
- Uncertain significance
- not specified; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.06
- CADD 5.52
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available