V8D (p.Val8Asp) variant of AGXT (P21549)
V8D (p.Val8Asp) 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, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes experimental measurements, published literature, and structural context.
V8D (p.Val8Asp) variant details
- p.Val8Asp
- rs2528738855
- ClinGen CA2586971624
- ClinVar RCV003468677
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- ESM-1b 0.00
- AlphaMissense 0.41
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- AGXT complementation assay *1 b: score 0.93
- 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)