A54E (p.Ala54Glu) variant of IL23R (Interleukin-23 receptor)
A54E (p.Ala54Glu) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- gnomAD 1-67169432-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.34
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available