E26E (p.Glu26Glu) variant of AGL (Glycogen debranching enzyme)
E26E (p.Glu26Glu) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E26E (p.Glu26Glu) variant details
- p.Glu26Glu
- rs143110759
- gnomAD 1-99851120-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 10.10
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available