G59R (p.Gly59Arg) variant of GAA (Lysosomal alpha-glucosidase)
G59R (p.Gly59Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- ExAC rs773387991
- gnomAD rs773387991
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.32
- MetaLR 0.42
- MetaSVM -0.63
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available