D41E (p.Asp41Glu) variant of IL6R (P08887)
D41E (p.Asp41Glu) in IL6R (P08887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- rs1393806703
- TOPMed rs1393806703
- gnomAD rs1393806703
- ClinGen CA342602649
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.01
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available