Q58Q (p.Gln58Gln) variant of GAA (Lysosomal alpha-glucosidase)
Q58Q (p.Gln58Gln) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q58Q (p.Gln58Gln) variant details
- p.Gln58Gln
- gnomAD 17-80104760-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 3.57
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available