M1I (p.Met1Ile) variant of AGXT (P21549)
M1I (p.Met1Ile) 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 0.74 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs180177213
- ClinGen CA275615
- ClinVar RCV000186272
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.68
- MetaSVM 0.47
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- 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)