E53A (p.Glu53Ala) variant of IL10RA (Q13651)
E53A (p.Glu53Ala) 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 0.38 / 1. The record also includes structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- rs2134981745
- ClinGen CA382772933
- ClinVar RCV002000884
- Ensembl rs2134981745
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.98
- PolyPhen-2 0.03
- SIFT 0.18
- EVE 0.41
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available