R8E (p.Arg8Glu) variant of AGL (Glycogen debranching enzyme)
R8E (p.Arg8Glu) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R8E (p.Arg8Glu) variant details
- p.Arg8Glu
- rs1215043175
- gnomAD 1-99851063-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 25.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available