Q40Q (p.Gln40Gln) variant of AGL (Glycogen debranching enzyme)
Q40Q (p.Gln40Gln) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- rs371655853
- gnomAD 1-99861540-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 4.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available