S19G (p.Ser19Gly) variant of IL23R (Interleukin-23 receptor)
S19G (p.Ser19Gly) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- rs185697788
- ClinGen CA899621
- ClinVar RCV001899118
- ClinVar RCV004042641
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available