I50V (p.Ile50Val) variant of IL23R (Interleukin-23 receptor)
I50V (p.Ile50Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- rs766991367
- ClinGen CA899651
- ClinVar RCV003658944
- ExAC rs766991367
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.13
- CADD 11.60
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available