Y64C (p.Tyr64Cys) variant of IL2RA (P01589)
Y64C (p.Tyr64Cys) 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 0.47 / 1. The record also includes structural context.
Y64C (p.Tyr64Cys) variant details
- p.Tyr64Cys
- rs2132859282
- ClinGen CA375930308
- ClinVar RCV001866344
- Ensembl rs2132859282
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.62
- MetaLR 0.28
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.51
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available