W35* (p.Trp35Ter) variant of IL23R (Interleukin-23 receptor)
W35* (p.Trp35Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
W35* (p.Trp35Ter) variant details
- p.Trp35Ter
- rs1384135313
- ClinGen CA340732163
- ClinVar RCV003670497
- TOPMed rs1384135313
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available