T56I (p.Thr56Ile) variant of AGL (Glycogen debranching enzyme)
T56I (p.Thr56Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- gnomAD 1-99861587-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.05
- CADD 16.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available