S158L (p.Ser158Leu) variant of AGXT (P21549)
S158L (p.Ser158Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S158L (p.Ser158Leu) variant details
- p.Ser158Leu
- rs180177225
- ClinGen CA275694
- ClinVar RCV000186309
- ClinVar RCV001233993
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- AGXT complementation assay *2 B: score 0.107
- Cited in: Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (PMID 15849466)
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)