G63R (p.Gly63Arg) variant of AGXT (P21549)
G63R (p.Gly63Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes experimental measurements, published literature, and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs180177181
- ClinGen CA275642
- ClinVar RCV000186285
- ClinVar RCV004689661
- Pathogenic
- Primary hyperoxaluria; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.79
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic (Primary hyperoxaluria; Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.634
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)