G47E (p.Gly47Glu) variant of AGXT (P21549)
G47E (p.Gly47Glu) 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 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- rs1171762321
- ClinGen CA351313242
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV003468678
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.217
- 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)