T91M (p.Thr91Met) variant of IL2RA (P01589)
T91M (p.Thr91Met) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T91M (p.Thr91Met) variant details
- p.Thr91Met
- rs72650666
- ClinGen CA5397502
- ClinVar RCV000498899
- ClinVar RCV001083317
- Conflicting interpretations
- not provided; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- REVEL 0.07
- CADD 2.24
- PolyPhen-2 0.35
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency due to CD25 deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.01)
- Structural context available