Q27Q (p.Gln27Gln) variant of AGL (Glycogen debranching enzyme)
Q27Q (p.Gln27Gln) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q27Q (p.Gln27Gln) variant details
- p.Gln27Gln
- gnomAD 1-99851123-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available