Q6Q (p.Gln6Gln) variant of AGL (Glycogen debranching enzyme)
Q6Q (p.Gln6Gln) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q6Q (p.Gln6Gln) variant details
- p.Gln6Gln
- rs1469251200
- gnomAD 1-99851060-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 12.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available