I9M (p.Ile9Met) variant of AGL (Glycogen debranching enzyme)
I9M (p.Ile9Met) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I9M (p.Ile9Met) variant details
- p.Ile9Met
- gnomAD 1-99851069-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.13
- MetaSVM -0.97
- CADD 19.97
- Population evidence available
- Structural context available
- Literature evidence available