S64Y (p.Ser64Tyr) variant of AGL (Glycogen debranching enzyme)
S64Y (p.Ser64Tyr) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S64Y (p.Ser64Tyr) variant details
- p.Ser64Tyr
- gnomAD 1-99861611-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.07
- CADD 17.35
- Population evidence available
- Structural context available
- Literature evidence available