C173Y (p.Cys173Tyr) variant of AGXT (P21549)
C173Y (p.Cys173Tyr) 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 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C173Y (p.Cys173Tyr) variant details
- p.Cys173Tyr
- rs180177231
- ClinGen CA275703
- ClinVar RCV000186314
- UniProt VAR 060555
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.11
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)