Y29* (p.Tyr29Ter) variant of AGL (Glycogen debranching enzyme)
Y29* (p.Tyr29Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y29* (p.Tyr29Ter) variant details
- p.Tyr29Ter
- gnomAD 1-99861507-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available