E30D (p.Glu30Asp) variant of AGL (Glycogen debranching enzyme)
E30D (p.Glu30Asp) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD 1-99861510-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.25
- MetaSVM -0.63
- CADD 12.64
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available