H56D (p.His56Asp) variant of GAA (Lysosomal alpha-glucosidase)
H56D (p.His56Asp) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H56D (p.His56Asp) variant details
- p.His56Asp
- gnomAD 17-80104752-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.60
- CADD 0.23
- PolyPhen-2 0.01
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available