G63D (p.Gly63Asp) variant of AGXT (P21549)
G63D (p.Gly63Asp) 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, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- rs760666036
- ClinGen CA2209032
- ClinVar RCV002651631
- ClinVar RCV003445215
- Conflicting interpretations
- Primary hyperoxaluria, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Primary hyperoxaluria, type I; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 4.3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.634
- 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)