G15R (p.Gly15Arg) variant of IL10 (Interleukin-10)
G15R (p.Gly15Arg) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inflammatory bowel disease; Graft-versus-host disease, susceptibility to; Rheuma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs145922845
- ClinGen CA1363853
- ClinVar RCV000767995
- ClinVar RCV001257069
- Conflicting interpretations
- Inflammatory bowel disease; Graft-versus-host disease, susceptibility to; Rheuma
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.20
- CADD 10.70
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Inflammatory bowel disease; Graft-versus-host disease, susceptib)
- EBI: Benign (in a family affected by Crohn disease)
- UniProt: Benign (in a family affected by Crohn disease)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: A Gly15Arg mutation in the interleukin-10 gene reduces secretion of interleukin-10 in Crohn disease. (PMID 12825869)