L12R (p.Leu12Arg) variant of GAA (Lysosomal alpha-glucosidase)
L12R (p.Leu12Arg) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- rs775312932
- gnomAD 17-80104620-CTCCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available