I7F (p.Ile7Phe) variant of AGL (Glycogen debranching enzyme)
I7F (p.Ile7Phe) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I7F (p.Ile7Phe) variant details
- p.Ile7Phe
- rs377021040
- gnomAD 1-99852688-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.11
- MetaSVM -1.01
- CADD 4.85
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available