D66Y (p.Asp66Tyr) variant of AGL (Glycogen debranching enzyme)
D66Y (p.Asp66Tyr) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D66Y (p.Asp66Tyr) variant details
- p.Asp66Tyr
- gnomAD 1-99861616-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -0.97
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available