C52F (p.Cys52Phe) variant of IL23R (Interleukin-23 receptor)
C52F (p.Cys52Phe) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C52F (p.Cys52Phe) variant details
- p.Cys52Phe
- gnomAD rs1260672434
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available