T45S (p.Thr45Ser) variant of AGL (Glycogen debranching enzyme)
T45S (p.Thr45Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- gnomAD 1-99861554-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.08
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available