H53P (p.His53Pro) variant of GAA (Lysosomal alpha-glucosidase)
H53P (p.His53Pro) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H53P (p.His53Pro) variant details
- p.His53Pro
- rs1027029347
- gnomAD 17-80104740-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available