W20L (p.Trp20Leu) variant of IL23R (Interleukin-23 receptor)
W20L (p.Trp20Leu) 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 0.69 / 1. The record also includes population frequency data and structural context.
W20L (p.Trp20Leu) variant details
- p.Trp20Leu
- rs765086515
- ClinGen CA340731863
- ClinVar RCV002598359
- ExAC rs765086515
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.64
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available