T40I (p.Thr40Ile) variant of IL23R (Interleukin-23 receptor)
T40I (p.Thr40Ile) in IL23R (Interleukin-23 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD 1-67169390-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.20
- CADD 15.30
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available