Q3H (p.Gln3His) variant of IL23R (Interleukin-23 receptor)
Q3H (p.Gln3His) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- rs1884444
- ClinGen CA899612
- ClinVar RCV001520832
- ClinVar RCV003487397
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs1884444)
- UniProt: Benign (in dbSNP:rs1884444)
- Population evidence available
- Structural context available
- Cited in: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. (PMID 17068223)