S49C (p.Ser49Cys) variant of IL23R (Interleukin-23 receptor)
S49C (p.Ser49Cys) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- gnomAD 1-67169417-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.62
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available