M109T (p.Met109Thr) variant of IL2RA (P01589)
M109T (p.Met109Thr) in IL2RA (P01589) is a missense change. Clinical records from ClinVar 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 0.04 / 1. The record also includes population frequency data and structural context.
M109T (p.Met109Thr) variant details
- p.Met109Thr
- TOPMed rs1176277980
- gnomAD rs1176277980
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0438
- REVEL 0.03
- CADD 1.42
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available