T56A (p.Thr56Ala) variant of AGL (Glycogen debranching enzyme)
T56A (p.Thr56Ala) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- cosmic curated COSV54050
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.94
- CADD 0.24
- Structural context available