M1N (p.Met1Asn) variant of AGXT (P21549)
M1N (p.Met1Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 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.
M1N (p.Met1Asn) variant details
- p.Met1Asn
- rs180177194
- ClinGen CA275812
- ClinVar RCV000186379
- ClinVar RCV001225511
- Pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- ESM-1b 1.00
- AlphaMissense 0.44
- ClinVar: Pathogenic (not provided; 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)