E59K (p.Glu59Lys) variant of AGXT (P21549)
E59K (p.Glu59Lys) 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 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs767586362
- ClinGen CA275640
- NCI-TCGA Cosmic COSV5675
- ClinVar RCV000186284
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.78
- MetaSVM 0.77
- CADD 30.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- AGXT complementation assay *2 B: score 0.934
- 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)