I202N (p.Ile202Asn) variant of AGXT (P21549)
I202N (p.Ile202Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I202N (p.Ile202Asn) variant details
- p.Ile202Asn
- rs536352238
- ClinGen CA275716
- ClinVar RCV000186322
- ClinVar RCV006456811
- Likely pathogenic
- Primary hyperoxaluria
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.72
- MetaSVM 0.37
- PolyPhen-2 0.56
- SIFT 0.01
- ClinVar: Likely pathogenic (Primary hyperoxaluria)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Population evidence available
- Structural context available
- AGXT complementation assay *2 B: score 1.02
- Cited in: Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. (PMID 24934730)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)