D58E (p.Asp58Glu) variant of AGXT (P21549)
D58E (p.Asp58Glu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- rs761756536
- ClinGen CA68173735
- ClinVar RCV001141969
- ExAC rs761756536
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 2.93
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00095)
- Structural context available
- AGXT complementation assay *2 B: score 1.33
- 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)