M113V (p.Met113Val) variant of IL2RA (P01589)
M113V (p.Met113Val) 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 0.08 / 1. The record also includes population frequency data and structural context.
M113V (p.Met113Val) variant details
- p.Met113Val
- rs781478336
- ClinGen CA5397491
- ClinVar RCV000697017
- ExAC rs781478336
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0759
- REVEL 0.07
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- 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 0.00021)
- Structural context available