W67L (p.Trp67Leu) variant of AGL (Glycogen debranching enzyme)
W67L (p.Trp67Leu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
W67L (p.Trp67Leu) variant details
- p.Trp67Leu
- cosmic curated COSV54053
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.39
- ESM-1b 0.98
- AlphaMissense 0.91
- MetaLR 0.18
- MetaSVM -0.92
- CADD 27.60
- Structural context available