Y64H (p.Tyr64His) variant of IL2RA (P01589)
Y64H (p.Tyr64His) 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 0.41 / 1. The record also includes population frequency data and structural context.
Y64H (p.Tyr64His) variant details
- p.Tyr64His
- rs1397929277
- ClinGen CA375930326
- ClinVar RCV002750195
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available