I6S (p.Ile6Ser) variant of IL23R (Interleukin-23 receptor)
I6S (p.Ile6Ser) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I6S (p.Ile6Ser) variant details
- p.Ile6Ser
- ExAC rs770324228
- TOPMed rs770324228
- gnomAD rs770324228
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.22
- CADD 3.61
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available