W20R (p.Trp20Arg) variant of IL23R (Interleukin-23 receptor)
W20R (p.Trp20Arg) 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 0.61 / 1. The record also includes population frequency data and structural context.
W20R (p.Trp20Arg) variant details
- p.Trp20Arg
- rs2525198587
- ClinGen CA340731861
- ClinVar RCV003833297
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.71
- CADD 23.60
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available