I50M (p.Ile50Met) variant of IL23R (Interleukin-23 receptor)
I50M (p.Ile50Met) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I50M (p.Ile50Met) variant details
- p.Ile50Met
- ExAC rs749888878
- TOPMed rs749888878
- gnomAD rs749888878
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.60
- CADD 22.80
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available