E30K (p.Glu30Lys) variant of AGL (Glycogen debranching enzyme)
E30K (p.Glu30Lys) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs932386485
- ClinGen CA27560358
- ClinVar RCV001364182
- gnomAD rs932386485
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.15
- MetaSVM -0.83
- CADD 21.80
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)