E57Q (p.Glu57Gln) variant of IL4R (P24394)
E57Q (p.Glu57Gln) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- gnomAD 16-27342219-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.01
- CADD 6.20
- PolyPhen-2 0.06
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available