G161R (p.Gly161Arg) variant of AGXT (P21549)
G161R (p.Gly161Arg) 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 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
G161R (p.Gly161Arg) variant details
- p.Gly161Arg
- rs180177227
- ClinGen CA275700
- ClinVar RCV000186312
- UniProt VAR 060554
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 b: score 0.105
- Cited in: The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated… (PMID 15963748)
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)