P39P (p.Pro39Pro) variant of GAA (Lysosomal alpha-glucosidase)
P39P (p.Pro39Pro) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P39P (p.Pro39Pro) variant details
- p.Pro39Pro
- rs1449695541
- gnomAD 17-80104703-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 4.54
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available