G350S (p.Gly350Ser) variant of AGXT (P21549)
G350S (p.Gly350Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G350S (p.Gly350Ser) variant details
- p.Gly350Ser
- rs199610919
- ClinGen CA2209387
- ClinVar RCV002038576
- ClinVar RCV003230727
- Conflicting interpretations
- not specified; Primary hyperoxaluria, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.83
- ESM-1b 0.91
- AlphaMissense 0.43
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Primary hyperoxaluria, type I; not provided)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- AGXT complementation assay *2 b: score 0.0246
- 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)