F52R (p.Phe52Arg) variant of AGL (Glycogen debranching enzyme)
F52R (p.Phe52Arg) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F52R (p.Phe52Arg) variant details
- p.Phe52Arg
- gnomAD 1-99861572-CATTTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available