G44G (p.Gly44Gly) variant of GAA (Lysosomal alpha-glucosidase)
G44G (p.Gly44Gly) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G44G (p.Gly44Gly) variant details
- p.Gly44Gly
- rs2143825106
- gnomAD 17-80104718-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0893
- CADD 1.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available