Y47Y (p.Tyr47Tyr) variant of AGL (Glycogen debranching enzyme)
Y47Y (p.Tyr47Tyr) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Y47Y (p.Tyr47Tyr) variant details
- p.Tyr47Tyr
- rs1650039603
- gnomAD 1-99861561-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.31
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available