G141R (p.Gly141Arg) variant of IL10RA (Q13651)
G141R (p.Gly141Arg) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G141R (p.Gly141Arg) variant details
- p.Gly141Arg
- rs137853579
- 1000Genomes rs137853579
- ExAC rs137853579
- TOPMed rs137853579
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- MetaLR 0.36
- MetaSVM -0.84
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Pathogenic (Inflammatory bowel disease 28)
- EBI: Pathogenic (in IBD28)
- UniProt: Pathogenic (in IBD28)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)