C51S (p.Cys51Ser) variant of IL2RA (P01589)
C51S (p.Cys51Ser) 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 0.69 / 1. The record also includes population frequency data and structural context.
C51S (p.Cys51Ser) variant details
- p.Cys51Ser
- rs2132859359
- ClinGen CA375930645
- ClinVar RCV001880508
- Ensembl rs2132859359
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.65
- CADD 23.30
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available