G61R (p.Gly61Arg) variant of IL2RA (P01589)
G61R (p.Gly61Arg) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- rs201617475
- ClinGen CA5397536
- ClinVar RCV003008919
- ClinVar RCV006281127
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 18.80
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available