E157Q (p.Glu157Gln) variant of AGXT (P21549)
E157Q (p.Glu157Gln) 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 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E157Q (p.Glu157Gln) variant details
- p.Glu157Gln
- rs1359760798
- ClinGen CA351315913
- ClinVar RCV003468693
- gnomAD rs1359760798
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.0258
- 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)