C178W (p.Cys178Trp) variant of AGXT (P21549)
C178W (p.Cys178Trp) 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 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
C178W (p.Cys178Trp) variant details
- p.Cys178Trp
- rs1400552764
- ClinGen CA351316515
- ClinVar RCV001280544
- TOPMed rs1400552764
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.856
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)