H5H (p.His5His) variant of GAA (Lysosomal alpha-glucosidase)
H5H (p.His5His) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H5H (p.His5His) variant details
- p.His5His
- gnomAD 17-80104601-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 2.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available