R59R (p.Arg59Arg) variant of AGL (Glycogen debranching enzyme)
R59R (p.Arg59Arg) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R59R (p.Arg59Arg) variant details
- p.Arg59Arg
- rs2101084841
- gnomAD 1-99861597-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 10.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available