G28G (p.Gly28Gly) variant of GAA (Lysosomal alpha-glucosidase)
G28G (p.Gly28Gly) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- rs769733901
- gnomAD 17-80104670-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available