I28M (p.Ile28Met) variant of IL23R (Interleukin-23 receptor)
I28M (p.Ile28Met) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- gnomAD 1-67169355-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.45
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available