V8L (p.Val8Leu) variant of AGXT (P21549)
V8L (p.Val8Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs796052057
- TOPMed rs796052057
- gnomAD rs796052057
- ClinGen CA275617
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- 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)