G54E (p.Gly54Glu) variant of AGL (Glycogen debranching enzyme)
G54E (p.Gly54Glu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- gnomAD rs1266947418
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -0.87
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available