I16V (p.Ile16Val) variant of IL23R (Interleukin-23 receptor)
I16V (p.Ile16Val) 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 0.11 / 1. The record also includes population frequency data and structural context.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- rs761754539
- ClinGen CA899619
- ClinVar RCV002663323
- ExAC rs761754539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.14
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.44
- 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