D54E (p.Asp54Glu) variant of IL6 (Interleukin-6)
D54E (p.Asp54Glu) in IL6 (Interleukin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- gnomAD 7-22727586-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.05
- CADD 7.14
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00054)
- Structural context available
- Literature evidence available