C16L (p.Cys16Leu) variant of GAA (Lysosomal alpha-glucosidase)
C16L (p.Cys16Leu) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C16L (p.Cys16Leu) variant details
- p.Cys16Leu
- rs768357356
- gnomAD 17-80104629-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.50
- Population evidence available
- Structural context available
- Literature evidence available