G161D (p.Gly161Asp) variant of AGXT (P21549)
G161D (p.Gly161Asp) 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 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G161D (p.Gly161Asp) variant details
- p.Gly161Asp
- rs1559568801
- ClinGen CA351315966
- ClinVar RCV003468694
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Population evidence available
- Structural context available
- AGXT complementation assay *1 b: score 0.105
- 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)