N72I (p.Asn72Ile) variant of AGXT (P21549)
N72I (p.Asn72Ile) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N72I (p.Asn72Ile) variant details
- p.Asn72Ile
- rs113879010
- ClinGen CA351313452
- ClinVar RCV001883482
- ClinVar RCV003470988
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.69
- 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)