H56H (p.His56His) variant of GAA (Lysosomal alpha-glucosidase)
H56H (p.His56His) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H56H (p.His56His) variant details
- p.His56His
- rs568993202
- gnomAD 17-80104754-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 1.51
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available