H33H (p.His33His) variant of GAA (Lysosomal alpha-glucosidase)
H33H (p.His33His) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H33H (p.His33His) variant details
- p.His33His
- rs144736309
- gnomAD 17-80104685-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.47
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available