I9F (p.Ile9Phe) variant of AGL (Glycogen debranching enzyme)
I9F (p.Ile9Phe) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I9F (p.Ile9Phe) variant details
- p.Ile9Phe
- rs1648909681
- gnomAD 1-99851065-GAA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available