I56F (p.Ile56Phe) variant of IL23R (Interleukin-23 receptor)
I56F (p.Ile56Phe) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.41 / 1. The record also includes population frequency data and structural context.
I56F (p.Ile56Phe) variant details
- p.Ile56Phe
- rs767092630
- ClinGen CA899656
- ClinVar RCV003719794
- ExAC rs767092630
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.35
- CADD 11.40
- PolyPhen-2 0.25
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available