W35C (p.Trp35Cys) variant of IL23R (Interleukin-23 receptor)
W35C (p.Trp35Cys) 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 0.66 / 1. The record also includes population frequency data and structural context.
W35C (p.Trp35Cys) variant details
- p.Trp35Cys
- rs1396700760
- ClinGen CA340732168
- ClinVar RCV002296631
- gnomAD rs1396700760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.64
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.00
- 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