p.Ser4dup variant of AGL (Glycogen debranching enzyme)
p.Ser4dup in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser4dup variant details
- gnomAD 1-99851051-C-CAGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 19.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available