G116W (p.Gly116Trp) variant of AGXT (P21549)
G116W (p.Gly116Trp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
G116W (p.Gly116Trp) variant details
- p.Gly116Trp
- rs180177207
- ClinGen CA351313963
- ClinVar RCV003468688
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 B: score 1.12
- 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)