G82E (p.Gly82Glu) variant of AGXT (P21549)
G82E (p.Gly82Glu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- rs121908522
- ClinGen CA340442
- ClinVar RCV000005997
- ClinVar RCV001851685
- Pathogenic
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- AGXT complementation assay *2 b: score 0.124
- Cited in: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the… (PMID 10960483)
- Cited in: A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of… (PMID 1349575)