E19G (p.Glu19Gly) variant of AGL (Glycogen debranching enzyme)
E19G (p.Glu19Gly) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- Ensembl rs1486386303
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.36
- MetaSVM -0.21
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available