R233H (p.Arg233His) variant of AGXT (P21549)
R233H (p.Arg233His) 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 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R233H (p.Arg233His) variant details
- p.Arg233His
- rs121908527
- ClinGen CA253545
- ClinVar RCV000006002
- ClinVar RCV001385647
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- AGXT complementation assay *1 B: score 0.78
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)
- Cited in: Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. (PMID 9192270)