R88P (p.Arg88Pro) variant of IL2RA (P01589)
R88P (p.Arg88Pro) 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 0.14 / 1. The record also includes population frequency data and structural context.
R88P (p.Arg88Pro) variant details
- p.Arg88Pro
- rs139340259
- ClinGen CA5397504
- ClinVar RCV002603096
- ClinVar RCV005353111
- Uncertain significance
- not specified; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.17
- CADD 6.70
- PolyPhen-2 0.30
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available