G42E (p.Gly42Glu) variant of AGXT (P21549)
G42E (p.Gly42Glu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs180177170
- ClinGen CA275631
- ClinVar RCV000186280
- 1000Genomes rs180177170
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 15.40
- PolyPhen-2 0.38
- SIFT 0.10
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0062)
- Structural context available
- AGXT complementation assay *1 B: score 0.601
- 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)