E57K (p.Glu57Lys) variant of IL4R (P24394)
E57K (p.Glu57Lys) 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 0.20 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs200293983
- ClinGen CA7974148
- cosmic curated COSV50151
- ClinVar RCV004254502
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.17
- CADD 9.57
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available