K4E (p.Lys4Glu) variant of IL33 (Interleukin-33)
K4E (p.Lys4Glu) in IL33 (Interleukin-33) 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 0.27 / 1. The record also includes population frequency data and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- rs754773206
- ClinGen CA4978697
- ClinVar RCV004237667
- ExAC rs754773206
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- AlphaMissense 0.12
- MetaLR 0.06
- MetaSVM -1.06
- CADD 13.20
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available