S120N (p.Ser120Asn) variant of IL2RA (P01589)
S120N (p.Ser120Asn) 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 0.13 / 1. The record also includes population frequency data and structural context.
S120N (p.Ser120Asn) variant details
- p.Ser120Asn
- rs2132857128
- ClinGen CA375927939
- ClinVar RCV002031126
- Ensembl rs2132857128
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.05
- CADD 0.71
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available