Y29Y (p.Tyr29Tyr) variant of AGL (Glycogen debranching enzyme)
Y29Y (p.Tyr29Tyr) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Y29Y (p.Tyr29Tyr) variant details
- p.Tyr29Tyr
- rs768278283
- gnomAD 1-99861507-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 7.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available