I169T (p.Ile169Thr) variant of IL10RA (Q13651)
I169T (p.Ile169Thr) 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 0.41 / 1. The record also includes population frequency data and structural context.
I169T (p.Ile169Thr) variant details
- p.Ile169Thr
- rs369219156
- ClinGen CA6298959
- ClinVar RCV001214188
- ESP rs369219156
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.30
- MetaLR 0.20
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.52
- SIFT 0.08
- ClinVar: Pathogenic (Inflammatory bowel disease 28)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available