T56S (p.Thr56Ser) variant of AGL (Glycogen debranching enzyme)
T56S (p.Thr56Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T56S (p.Thr56Ser) variant details
- p.Thr56Ser
- gnomAD 1-99861586-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0808
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.93
- CADD 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available