W67* (p.Trp67Ter) variant of AGL (Glycogen debranching enzyme)
W67* (p.Trp67Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W67* (p.Trp67Ter) variant details
- p.Trp67Ter
- gnomAD 1-99861620-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available