V94M (p.Val94Met) variant of IL2RA (P01589)
V94M (p.Val94Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- rs771893707
- ClinGen CA5397499
- ClinVar RCV001040555
- ClinVar RCV005851673
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- CADD 21.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available