M65I (p.Met65Ile) variant of IL2RA (P01589)
M65I (p.Met65Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
M65I (p.Met65Ile) variant details
- p.Met65Ile
- rs1589295742
- ClinGen CA375930275
- ClinVar RCV003515181
- Ensembl rs1589295742
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- CADD 5.93
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available