A55T (p.Ala55Thr) variant of IL23R (Interleukin-23 receptor)
A55T (p.Ala55Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs539781624
- ClinGen CA899653
- ClinVar RCV001368567
- ExAC rs539781624
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.08
- CADD 5.87
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available