H10H (p.His10His) variant of GAA (Lysosomal alpha-glucosidase)
H10H (p.His10His) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H10H (p.His10His) variant details
- p.His10His
- gnomAD 17-80104616-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0872
- CADD 0.93
- Population evidence available
- Structural context available
- Literature evidence available