W67F (p.Trp67Phe) variant of AGL (Glycogen debranching enzyme)
W67F (p.Trp67Phe) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W67F (p.Trp67Phe) variant details
- p.Trp67Phe
- gnomAD 1-99861619-T-TTTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available