T43A (p.Thr43Ala) variant of IL4R (P24394)
T43A (p.Thr43Ala) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs749110570
- TOPMed rs749110570
- gnomAD rs749110570
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available