F152I (p.Phe152Ile) variant of AGXT (P21549)
F152I (p.Phe152Ile) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of AGXT-related disorder; Primary hyperoxaluria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F152I (p.Phe152Ile) variant details
- p.Phe152Ile
- rs121908524
- ClinGen CA340444
- ClinVar RCV000005999
- ClinVar RCV000727639
- Pathogenic
- AGXT-related disorder; Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (AGXT-related disorder; Primary hyperoxaluria; not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available
- AGXT complementation assay *1 B: score 0.81
- 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)