R233C (p.Arg233Cys) variant of AGXT (P21549)
R233C (p.Arg233Cys) 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; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R233C (p.Arg233Cys) variant details
- p.Arg233Cys
- rs121908526
- ClinGen CA340446
- ClinVar RCV000006001
- ClinVar RCV001070457
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- AGXT complementation assay *1 B: score 0.78
- Cited in: Identification of 5 novel mutations in the AGXT gene. (PMID 10862087)
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)