T56T (p.Thr56Thr) variant of AGL (Glycogen debranching enzyme)
T56T (p.Thr56Thr) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T56T (p.Thr56Thr) variant details
- p.Thr56Thr
- rs750733055
- gnomAD 1-99861588-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 7.15
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available