R117C (p.Arg117Cys) variant of IL10RA (Q13651)
R117C (p.Arg117Cys) 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 and structural context.
R117C (p.Arg117Cys) variant details
- p.Arg117Cys
- rs759537444
- ClinGen CA229441923
- ClinVar RCV003527589
- TOPMed rs759537444
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.66
- MetaLR 0.55
- MetaSVM 0.12
- CADD 26.00
- 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 REMAINING population (allele frequency 3.3e-05)
- Structural context available