G161S (p.Gly161Ser) variant of AGXT (P21549)
G161S (p.Gly161Ser) 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 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G161S (p.Gly161Ser) variant details
- p.Gly161Ser
- rs180177227
- ClinGen CA275698
- ClinVar RCV000186311
- ClinVar RCV000662317
- Pathogenic
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.50
- ClinVar: Pathogenic (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- AGXT complementation assay *1 b: score 0.105
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)
- Cited in: Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular… (PMID 24055001)