F57* (p.Phe57Ter) variant of AGL (Glycogen debranching enzyme)
F57* (p.Phe57Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F57* (p.Phe57Ter) variant details
- p.Phe57Ter
- rs1201531708
- gnomAD 1-99861587-CAT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 29.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available