H83R (p.His83Arg) variant of AGXT (P21549)
H83R (p.His83Arg) 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. 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.
H83R (p.His83Arg) variant details
- p.His83Arg
- rs180177186
- ClinGen CA275655
- ClinVar RCV000186291
- ClinVar RCV004700567
- Likely pathogenic
- Primary hyperoxaluria
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 1.09
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)