A34T (p.Ala34Thr) variant of IL2RA (P01589)
A34T (p.Ala34Thr) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs773957702
- ClinGen CA5397544
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99906
- Conflicting interpretations
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency due to CD25 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available