G82R (p.Gly82Arg) variant of AGXT (P21549)
G82R (p.Gly82Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary hyperoxaluria; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G82R (p.Gly82Arg) variant details
- p.Gly82Arg
- rs180177185
- ClinGen CA351313532
- ClinVar RCV003468682
- ClinVar RCV005419633
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- AGXT complementation assay *2 b: score 0.124
- Cited in: Clinical implications of mutation analysis in primary hyperoxaluria type 1. (PMID 15253729)
- Cited in: Primary hyperoxaluria. (PMID 23944302)