S223R (p.Ser223Arg) variant of AGXT (P21549)
S223R (p.Ser223Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
S223R (p.Ser223Arg) variant details
- p.Ser223Arg
- rs2528753327
- ClinGen CA351317048
- ClinVar RCV003468707
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.207
- 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)