D201E (p.Asp201Glu) variant of AGXT (P21549)
D201E (p.Asp201Glu) 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 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D201E (p.Asp201Glu) variant details
- p.Asp201Glu
- rs180177246
- ClinGen CA275715
- ClinVar RCV000186321
- ClinVar RCV001222818
- Pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 15.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- AGXT complementation assay *2 b: score 0.131
- Cited in: Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (PMID 15849466)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)