S74L (p.Ser74Leu) variant of IL2RA (P01589)
S74L (p.Ser74Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- rs756444069
- ClinGen CA5397528
- cosmic curated COSV99906
- ClinVar RCV001314164
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.22
- CADD 10.60
- PolyPhen-2 0.21
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0012)
- Structural context available