I64N (p.Ile64Asn) variant of AGXT (P21549)
I64N (p.Ile64Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
I64N (p.Ile64Asn) variant details
- p.Ile64Asn
- rs2528739984
- ClinGen CA351313399
- ClinVar RCV003445264
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- ESM-1b 1.00
- AlphaMissense 0.72
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- AGXT complementation assay *1 b: score 0.923
- 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)