G36D (p.Gly36Asp) variant of AGL (Glycogen debranching enzyme)
G36D (p.Gly36Asp) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- ExAC rs748680148
- gnomAD rs748680148
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.16
- MetaSVM -0.97
- CADD 26.30
- Structural context available