I7M (p.Ile7Met) variant of AGL (Glycogen debranching enzyme)
I7M (p.Ile7Met) 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 population frequency data, published literature, and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- rs1221707484
- gnomAD 1-99852681-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0959
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.09
- MetaSVM -1.03
- CADD 2.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available