R101W (p.Arg101Trp) variant of IL10RA (Q13651)
R101W (p.Arg101Trp) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of IL10RA-related disorder; not provided; Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R101W (p.Arg101Trp) variant details
- p.Arg101Trp
- rs368287711
- ClinGen CA130286
- NCI-TCGA Cosmic COSV5713
- ClinVar RCV000032627
- Pathogenic/Likely pathogenic
- IL10RA-related disorder; not provided; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.67
- MetaLR 0.59
- MetaSVM 0.24
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (IL10RA-related disorder; not provided; Inflammatory bowel diseas)
- EBI: Pathogenic (in IBD28)
- UniProt: Pathogenic (in IBD28)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. (PMID 22476154)
- Cited in: Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating… (PMID 23839161)