S111N (p.Ser111Asn) variant of IL2RA (P01589)
S111N (p.Ser111Asn) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
S111N (p.Ser111Asn) variant details
- p.Ser111Asn
- rs56054476
- ClinGen CA5397492
- ClinVar RCV000812221
- ClinVar RCV004028763
- Uncertain significance
- not specified; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.05
- REVEL 0.02
- CADD 3.27
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available