G41R (p.Gly41Arg) variant of AGXT (P21549)
G41R (p.Gly41Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- rs121908523
- ClinGen CA351313171
- ClinVar RCV002664289
- ClinVar RCV003466000
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 20.30
- PolyPhen-2 0.99
- SIFT 0.47
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.492
- Cited in: Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. (PMID 10541294)
- Cited in: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the… (PMID 10960483)