S52C (p.Ser52Cys) variant of IL10RA (Q13651)
S52C (p.Ser52Cys) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S52C (p.Ser52Cys) variant details
- p.Ser52Cys
- rs1366152604
- ClinGen CA382772919
- ClinVar RCV002609932
- TOPMed rs1366152604
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.38
- MetaLR 0.46
- MetaSVM -0.01
- CADD 22.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available