C30S (p.Cys30Ser) variant of IL23R (Interleukin-23 receptor)
C30S (p.Cys30Ser) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C30S (p.Cys30Ser) variant details
- p.Cys30Ser
- gnomAD 1-67169360-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.71
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available