L359P (p.Leu359Pro) variant of AGXT (P21549)
L359P (p.Leu359Pro) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of AGXT-related disorder; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L359P (p.Leu359Pro) variant details
- p.Leu359Pro
- rs180177160
- ClinGen CA275781
- ClinVar RCV000186353
- Ensembl rs180177160
- Likely pathogenic
- AGXT-related disorder; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (AGXT-related disorder; Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- AGXT complementation assay *1 b: score 0.954
- 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)