C125Y (p.Cys125Tyr) variant of IL2RA (P01589)
C125Y (p.Cys125Tyr) in IL2RA (P01589) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C125Y (p.Cys125Tyr) variant details
- p.Cys125Tyr
- TOPMed rs1839390431
- gnomAD rs1839390431
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available