E30E (p.Glu30Glu) variant of AGL (Glycogen debranching enzyme)
E30E (p.Glu30Glu) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs1485709719
- gnomAD 1-99861510-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 5.86
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available