R360W (p.Arg360Trp) variant of AGXT (P21549)
R360W (p.Arg360Trp) 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, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R360W (p.Arg360Trp) variant details
- p.Arg360Trp
- rs758493460
- ClinGen CA2209414
- ClinVar RCV002651634
- ClinVar RCV004572813
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria, type I; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available
- AGXT complementation assay *2 B: score -0.0033
- 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)