A10T (p.Ala10Thr) variant of IL23R (Interleukin-23 receptor)
A10T (p.Ala10Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs769230441
- ClinGen CA899617
- ClinVar RCV003021578
- ExAC rs769230441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.27
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available