I244N (p.Ile244Asn) variant of AGXT (P21549)
I244N (p.Ile244Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
I244N (p.Ile244Asn) variant details
- p.Ile244Asn
- rs121908525
- ClinGen CA351318146
- ClinVar RCV003448957
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- ESM-1b 0.98
- AlphaMissense 0.36
- MetaLR 0.81
- MetaSVM 0.94
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 B: score 1.05
- 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)