M15I (p.Met15Ile) variant of IL2RA (P01589)
M15I (p.Met15Ile) 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 0.07 / 1. The record also includes population frequency data and structural context.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- rs74162092
- ClinGen CA5397572
- ClinVar RCV001872097
- ExAC rs74162092
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0653
- REVEL 0.04
- CADD 2.77
- PolyPhen-2 0.00
- SIFT 0.35
- 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 2.9e-05)
- Structural context available