R262C (p.Arg262Cys) variant of IL10RA (Q13651)
R262C (p.Arg262Cys) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R262C (p.Arg262Cys) variant details
- p.Arg262Cys
- rs149491038
- ClinGen CA130284
- ClinVar RCV000032625
- UniProt VAR 071667
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.20
- MetaLR 0.27
- MetaSVM -0.85
- CADD 23.80
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic (Inflammatory bowel disease 28)
- EBI: Pathogenic (in IBD28)
- UniProt: Pathogenic (in IBD28)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. (PMID 21519361)
- Cited in: Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating… (PMID 23839161)