M46T (p.Met46Thr) variant of IL2RA (P01589)
M46T (p.Met46Thr) 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 0.10 / 1. The record also includes population frequency data and structural context.
M46T (p.Met46Thr) variant details
- p.Met46Thr
- rs979148208
- ClinGen CA202296659
- ClinVar RCV001998136
- TOPMed rs979148208
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0976
- REVEL 0.10
- CADD 4.02
- PolyPhen-2 0.35
- SIFT 0.15
- 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 1.2e-05)
- Structural context available