R8R (p.Arg8Arg) variant of AGL (Glycogen debranching enzyme)
R8R (p.Arg8Arg) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 1-99851064-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available