C16* (p.Cys16Ter) variant of GAA (Lysosomal alpha-glucosidase)
C16* (p.Cys16Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C16* (p.Cys16Ter) variant details
- p.Cys16Ter
- gnomAD 17-80104634-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available