I48V (p.Ile48Val) variant of IL23R (Interleukin-23 receptor)
I48V (p.Ile48Val) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- gnomAD 1-67169413-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.23
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available