Q6E (p.Gln6Glu) variant of AGL (Glycogen debranching enzyme)
Q6E (p.Gln6Glu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q6E (p.Gln6Glu) variant details
- p.Gln6Glu
- gnomAD 1-99851058-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -0.97
- CADD 19.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available