E45K (p.Glu45Lys) variant of IL4R (P24394)
E45K (p.Glu45Lys) in IL4R (P24394) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1051167644
- ClinGen CA279698895
- NCI-TCGA Cosmic COSV9940
- cosmic curated COSV99404
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available