E51G (p.Glu51Gly) variant of GAA (Lysosomal alpha-glucosidase)
E51G (p.Glu51Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- TOPMed rs980788190
- gnomAD rs980788190
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.26
- MetaLR 0.38
- MetaSVM -0.72
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available