C59R (p.Cys59Arg) variant of IL23R (Interleukin-23 receptor)
C59R (p.Cys59Arg) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C59R (p.Cys59Arg) variant details
- p.Cys59Arg
- ExAC rs748673781
- gnomAD rs748673781
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available