P7P (p.Pro7Pro) variant of GAA (Lysosomal alpha-glucosidase)
P7P (p.Pro7Pro) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs2143823837
- gnomAD 17-80104607-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 5.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available