E52G (p.Glu52Gly) variant of OTC (P00480)
E52G (p.Glu52Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
E52G (p.Glu52Gly) variant details
- p.Glu52Gly
- rs72554317
- ClinGen CA224478
- ClinVar RCV000083349
- Ensembl rs72554317
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.77
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available