A14L (p.Ala14Leu) variant of GAA (Lysosomal alpha-glucosidase)
A14L (p.Ala14Leu) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A14L (p.Ala14Leu) variant details
- p.Ala14Leu
- rs760443056
- gnomAD 17-80104625-GGCCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available