R118H (p.Arg118His) variant of AGXT (P21549)
R118H (p.Arg118His) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R118H (p.Arg118His) variant details
- p.Arg118His
- rs138025751
- ClinGen CA275679
- ClinVar RCV000186302
- ESP rs138025751
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.84
- MetaSVM 0.93
- CADD 27.20
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- AGXT complementation assay *1 B: score 0.481
- 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)