T84I (p.Thr84Ile) variant of IL10RA (Q13651)
T84I (p.Thr84Ile) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T84I (p.Thr84Ile) variant details
- p.Thr84Ile
- rs137853580
- ClinGen CA124334
- ClinVar RCV000015938
- UniProt VAR 063542
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- MetaLR 0.62
- MetaSVM 0.33
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inflammatory bowel disease 28)
- EBI: Pathogenic (in IBD28)
- UniProt: Pathogenic (in IBD28)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. (PMID 19890111)
- Cited in: Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating… (PMID 23839161)