R45Q (p.Arg45Gln) variant of IL10 (Interleukin-10)
R45Q (p.Arg45Gln) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs550164520
- ClinGen CA1363835
- ClinVar RCV001042351
- 1000Genomes rs550164520
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.64
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available