S187F (p.Ser187Phe) variant of AGXT (P21549)
S187F (p.Ser187Phe) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S187F (p.Ser187Phe) variant details
- p.Ser187Phe
- rs180177238
- ClinGen CA345702
- ClinVar RCV000128801
- ClinVar RCV003317095
- Pathogenic
- Primary hyperoxaluria; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.91
- MetaSVM 1.08
- CADD 24.00
- ClinVar: Pathogenic (Primary hyperoxaluria; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.969
- Cited in: A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and… (PMID 1301173)
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)