C52Y (p.Cys52Tyr) variant of IL23R (Interleukin-23 receptor)
C52Y (p.Cys52Tyr) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C52Y (p.Cys52Tyr) variant details
- p.Cys52Tyr
- gnomAD 1-67169426-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available