L12* (p.Leu12Ter) variant of AGL (Glycogen debranching enzyme)
L12* (p.Leu12Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L12* (p.Leu12Ter) variant details
- p.Leu12Ter
- gnomAD 1-99851075-TC-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available