Y157C (p.Tyr157Cys) variant of IL10RA (Q13651)
Y157C (p.Tyr157Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
Y157C (p.Tyr157Cys) variant details
- p.Tyr157Cys
- rs1027503096
- ClinGen CA229444751
- ClinVar RCV003037432
- TOPMed rs1027503096
- Pathogenic
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.46
- MetaLR 0.36
- MetaSVM -0.54
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inflammatory bowel disease 28)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available