C173R (p.Cys173Arg) variant of AGXT (P21549)
C173R (p.Cys173Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C173R (p.Cys173Arg) variant details
- p.Cys173Arg
- rs2106428650
- ClinGen CA351316162
- ClinVar RCV003467981
- ClinVar RCV006262815
- Conflicting interpretations
- not specified; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; 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: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)