E59* (p.Glu59Ter) variant of AGXT (P21549)
E59* (p.Glu59Ter) in AGXT (P21549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes experimental measurements and structural context.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- rs767586362
- ClinGen CA351313364
- ClinVar RCV001939627
- ExAC rs767586362
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.40
- MetaLR 0.78
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *2 B: score 0.934