S187Y (p.Ser187Tyr) variant of AGXT (P21549)
S187Y (p.Ser187Tyr) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
S187Y (p.Ser187Tyr) variant details
- p.Ser187Tyr
- rs180177238
- ClinGen CA351316564
- ClinVar RCV003445271
- ClinVar RCV005419628
- Conflicting interpretations
- not specified; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Primary hyperoxaluria, type I)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 B: score 0.969
- 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)