Q32Q (p.Gln32Gln) variant of AGL (Glycogen debranching enzyme)
Q32Q (p.Gln32Gln) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q32Q (p.Gln32Gln) variant details
- p.Gln32Gln
- gnomAD 1-99861516-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 7.69
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available