F36S (p.Phe36Ser) variant of IL2RA (P01589)
F36S (p.Phe36Ser) 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 0.40 / 1. The record also includes structural context.
F36S (p.Phe36Ser) variant details
- p.Phe36Ser
- rs1839477553
- ClinGen CA375931097
- ClinVar RCV001877624
- ClinVar RCV004040608
- Uncertain significance
- not specified; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.71
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (not specified; Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available