W20* (p.Trp20Ter) variant of IL23R (Interleukin-23 receptor)
W20* (p.Trp20Ter) in IL23R (Interleukin-23 receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- ExAC rs765086515
- TOPMed rs765086515
- gnomAD rs765086515
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available