G27E (p.Gly27Glu) variant of AGXT (P21549)
G27E (p.Gly27Glu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs765405040
- ClinGen CA351313017
- ClinVar RCV003468715
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- AGXT complementation assay *1 b: score -0.0123
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)