L12Q (p.Leu12Gln) variant of AGL (Glycogen debranching enzyme)
L12Q (p.Leu12Gln) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 1-99851077-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.64
- MetaSVM 0.44
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available