Q3R (p.Gln3Arg) variant of IL23R (Interleukin-23 receptor)
Q3R (p.Gln3Arg) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- rs756938673
- ClinGen CA899611
- ClinVar RCV003819801
- ExAC rs756938673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.11
- CADD 8.92
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs1884444)
- UniProt: Uncertain significance (in dbSNP:rs1884444)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available