L26P (p.Leu26Pro) variant of AGXT (P21549)
L26P (p.Leu26Pro) 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 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- rs180177268
- ClinGen CA275625
- ClinVar RCV000186277
- TOPMed rs180177268
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.92
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.743
- 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)