I34V (p.Ile34Val) variant of IL23R (Interleukin-23 receptor)
I34V (p.Ile34Val) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- gnomAD rs1156783916
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.09
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available