E19E (p.Glu19Glu) variant of AGL (Glycogen debranching enzyme)
E19E (p.Glu19Glu) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- rs1462906506
- gnomAD 1-99851099-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available