Q101* (p.Gln101Ter) variant of IL2RA (P01589)
Q101* (p.Gln101Ter) in IL2RA (P01589) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q101* (p.Gln101Ter) variant details
- p.Gln101Ter
- rs886041037
- ClinGen CA10602389
- ClinVar RCV000185639
- ClinVar RCV001818449
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.96
- CADD 34.00
- PolyPhen-2 0.13
- SIFT 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective… (PMID 17196245)