I56N (p.Ile56Asn) variant of AGXT (P21549)
I56N (p.Ile56Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I56N (p.Ile56Asn) variant details
- p.Ile56Asn
- rs180177180
- ClinGen CA275638
- ClinVar RCV000186283
- ClinVar RCV003229816
- Conflicting interpretations
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00035)
- Structural context available
- AGXT complementation assay *1 b: score 0.601
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)