G28G (p.Gly28Gly) variant of AGL (Glycogen debranching enzyme)
G28G (p.Gly28Gly) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- rs758514310
- gnomAD 1-99861504-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 8.76
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available