G350D (p.Gly350Asp) variant of AGXT (P21549)
G350D (p.Gly350Asp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AGXT-related disorder; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G350D (p.Gly350Asp) variant details
- p.Gly350Asp
- rs180177156
- ClinGen CA274217
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV000169365
- Pathogenic/Likely pathogenic
- AGXT-related disorder; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (AGXT-related disorder; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available
- AGXT complementation assay *2 b: score 0.0246
- Cited in: Identification of new mutations in primary hyperoxaluria type 1 (PH1). (PMID 9604803)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)