H29H (p.His29His) variant of GAA (Lysosomal alpha-glucosidase)
H29H (p.His29His) 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.
H29H (p.His29His) variant details
- p.His29His
- rs2039028572
- gnomAD 17-80104673-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.41
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available