I244T (p.Ile244Thr) variant of AGXT (P21549)
I244T (p.Ile244Thr) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of AGXT-related disorder; Primary hyperoxaluria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I244T (p.Ile244Thr) variant details
- p.Ile244Thr
- rs121908525
- ClinGen CA340445
- ClinVar RCV000006000
- ClinVar RCV000586265
- Pathogenic
- AGXT-related disorder; Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.81
- MetaSVM 0.94
- CADD 22.80
- ClinVar: Pathogenic (AGXT-related disorder; Primary hyperoxaluria; not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available
- AGXT complementation assay *1 B: score 1.05
- Cited in: Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. (PMID 10541294)
- Cited in: Identification of 5 novel mutations in the AGXT gene. (PMID 10862087)