H53H (p.His53His) variant of GAA (Lysosomal alpha-glucosidase)
H53H (p.His53His) 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.
H53H (p.His53His) variant details
- p.His53His
- rs2143825464
- gnomAD 17-80104745-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0903
- CADD 1.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available