V7E (p.Val7Glu) variant of IL10RA (Q13651)
V7E (p.Val7Glu) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V7E (p.Val7Glu) variant details
- p.Val7Glu
- rs2057986809
- ClinGen CA382771884
- ClinVar RCV001049526
- Ensembl rs2057986809
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.51
- MetaLR 0.37
- MetaSVM -0.79
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.05
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available