I7T (p.Ile7Thr) variant of AGL (Glycogen debranching enzyme)
I7T (p.Ile7Thr) 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 structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- Ensembl rs1648908814
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -0.96
- CADD 20.20
- Structural context available