G59* (p.Gly59Ter) variant of GAA (Lysosomal alpha-glucosidase)
G59* (p.Gly59Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G59* (p.Gly59Ter) variant details
- p.Gly59Ter
- ExAC rs773387991
- gnomAD rs773387991
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 34.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available