L18F (p.Leu18Phe) variant of AGXT (P21549)
L18F (p.Leu18Phe) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs2528739011
- ClinGen CA351312842
- ClinVar RCV003468708
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- ESM-1b 0.47
- AlphaMissense 0.18
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- AGXT complementation assay *1 B: score 0.749
- 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)