R16C (p.Arg16Cys) variant of IL10RA (Q13651)
R16C (p.Arg16Cys) 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 0.15 / 1. The record also includes population frequency data and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs748428395
- ClinGen CA6298793
- ClinVar RCV001035429
- ExAC rs748428395
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.99
- CADD 9.90
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available