T78K (p.Thr78Lys) variant of IL23R (Interleukin-23 receptor)
T78K (p.Thr78Lys) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T78K (p.Thr78Lys) variant details
- p.Thr78Lys
- gnomAD 1-67169504-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.48
- CADD 13.10
- PolyPhen-2 0.23
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available