R36H (p.Arg36His) variant of AGXT (P21549)
R36H (p.Arg36His) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AGXT-related disorder; Primary hyperoxaluria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs180177162
- ClinGen CA275627
- ClinVar RCV000186278
- ClinVar RCV001383728
- Pathogenic/Likely pathogenic
- AGXT-related disorder; Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (AGXT-related disorder; Primary hyperoxaluria; not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- AGXT complementation assay *1 B: score 0.044
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)