G170R (p.Gly170Arg) variant of AGXT (P21549)
G170R (p.Gly170Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G170R (p.Gly170Arg) variant details
- p.Gly170Arg
- rs121908529
- ClinGen CA68178405
- ClinVar RCV003552420
- ClinVar RCV004701090
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available
- AGXT complementation assay *1 b: score 0.788
- Cited in: Identification of 5 novel mutations in the AGXT gene. (PMID 10862087)
- Cited in: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the… (PMID 10960483)