R56H (p.Arg56His) variant of IL2RA (P01589)
R56H (p.Arg56His) 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 0.44 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- rs886047083
- ClinGen CA10635576
- NCI-TCGA Cosmic COSV5692
- cosmic curated COSV56923
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.37
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available