S205L (p.Ser205Leu) variant of AGXT (P21549)
S205L (p.Ser205Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S205L (p.Ser205Leu) variant details
- p.Ser205Leu
- rs180177248
- ClinGen CA275721
- NCI-TCGA Cosmic COSV5675
- ClinVar RCV000186324
- Pathogenic
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.83
- MetaSVM 0.91
- CADD 24.80
- ClinVar: Pathogenic (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.853
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)