M1L (p.Met1Leu) variant of IL2RA (P01589)
M1L (p.Met1Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs755829547
- ClinGen CA375940579
- ClinVar RCV002711413
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- MetaLR 0.24
- MetaSVM -0.83
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available