G190R (p.Gly190Arg) variant of AGXT (P21549)
G190R (p.Gly190Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of AGXT-related disorder; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G190R (p.Gly190Arg) variant details
- p.Gly190Arg
- rs180177239
- ClinGen CA351316577
- ClinVar RCV003324165
- ClinGen CA274318
- Pathogenic
- AGXT-related disorder; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Primary hyperoxaluria)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- AGXT complementation assay *1 B: score 0.854
- Cited in: Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. (PMID 10541294)
- Cited in: Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (PMID 15849466)