G44D (p.Gly44Asp) variant of GAA (Lysosomal alpha-glucosidase)
G44D (p.Gly44Asp) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- ExAC rs550609502
- TOPMed rs550609502
- gnomAD rs550609502
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.27
- MetaLR 0.38
- MetaSVM -0.72
- CADD 3.55
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available