E92K (p.Glu92Lys) variant of IL10 (Interleukin-10)
E92K (p.Glu92Lys) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- rs780612967
- ClinGen CA1363787
- ClinVar RCV001228939
- ExAC rs780612967
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available