C125F (p.Cys125Phe) variant of IL2RA (P01589)
C125F (p.Cys125Phe) 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 0.82 / 1. The record also includes population frequency data and structural context.
C125F (p.Cys125Phe) variant details
- p.Cys125Phe
- rs1839390431
- ClinGen CA375927005
- ClinVar RCV001365275
- TOPMed rs1839390431
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available