V12E (p.Val12Glu) variant of IL4R (P24394)
V12E (p.Val12Glu) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V12E (p.Val12Glu) variant details
- p.Val12Glu
- gnomAD 16-27340238-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.23
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available