G41E (p.Gly41Glu) variant of AGXT (P21549)
G41E (p.Gly41Glu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary hyperoxaluria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- rs180177168
- ClinGen CA275629
- ClinVar RCV000186279
- ClinVar RCV005089932
- Conflicting interpretations
- Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 22.20
- PolyPhen-2 0.98
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Primary hyperoxaluria; not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.492
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)